Linked Data
dbSNP Id:
rs11191593
gnomAD v2:
10-104939215-T-C
gnomAD v3:
10-103179458-T-C
gnomAD v4:
10-103179458-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103179458T>C , CM000672.2:g.103179458T>C | GRCh38 |
| NC_000010.10:g.104939215T>C , CM000672.1:g.104939215T>C | GRCh37 |
| NC_000010.9:g.104929205T>C | NCBI36 |
| NG_042272.1:g.18849A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369857.9:c.-24-4476A>G | ENSP00000501806.1:n.-24-4476A>G | |
| ENST00000404739.8:c.-25+1727A>G MANE Select | ENSP00000383960.3:n.-25+1727A>G | |
| ENST00000470299.2:c.-24-4476A>G | ENSP00000474247.1:n.-24-4476A>G | |
| ENST00000674696.1:c.-24-4476A>G | ENSP00000502679.1:n.-24-4476A>G | |
| ENST00000674728.1:c.-24-4476A>G | ENSP00000502126.1:n.-24-4476A>G | |
| ENST00000674860.1:c.-25+1727A>G | ENSP00000502816.1:n.-25+1727A>G | |
| ENST00000675020.1:c.-25+1727A>G | ENSP00000501653.1:n.-25+1727A>G | |
| ENST00000675164.1:c.-24-4476A>G | ENSP00000502128.1:n.-24-4476A>G | |
| ENST00000675326.1:c.-25+1727A>G | ENSP00000502205.1:n.-25+1727A>G | |
| ENST00000675436.1:c.-25+1727A>G | ENSP00000501565.1:n.-25+1727A>G | |
| ENST00000675645.1:c.-24-4476A>G | ENSP00000502663.1:n.-24-4476A>G | |
| ENST00000675811.1:c.-24-4476A>G | ENSP00000501901.1:n.-24-4476A>G | |
| ENST00000676428.1:c.-24-4476A>G | ENSP00000501689.1:n.-24-4476A>G | |
| ENST00000676449.1:c.-24-4476A>G | ENSP00000502801.1:n.-24-4476A>G | |
| ENST00000343289.9:c.-24-4476A>G | ENSP00000339479.5:n.-24-4476A>G | |
| ENST00000369857.8:n.37+13778A>G | ||
| ENST00000452156.5:c.-24-4476A>G | ENSP00000396468.1:n.-24-4476A>G | |
| ENST00000461461.5:c.-24-4476A>G | ENSP00000474091.1:n.-24-4476A>G | |
| ENST00000467380.1:n.136+1727A>G | ||
| ENST00000470299.1:c.-24-4476A>G | ENSP00000474247.1:n.-24-4476A>G | |
| NM_001134373.2:c.-24-4476A>G | NP_001127845.1:n.-24-4476A>G | |
| NM_012229.4:c.-25+1773A>G | NP_036361.1:n.-25+1773A>G | |
| XM_005269632.3:c.-24-4476A>G | XP_005269689.1:n.-24-4476A>G | |
| XM_005269633.3:c.-25+1773A>G | XP_005269690.1:n.-25+1773A>G | |
| XM_005269634.3:c.-25+1727A>G | XP_005269691.1:n.-25+1727A>G | |
| XM_005269636.3:c.-25+1727A>G | XP_005269693.1:n.-25+1727A>G | |
| XM_005269640.3:c.-659+1773A>G | XP_005269697.1:n.-659+1773A>G | |
| XM_005269641.3:c.-658-4476A>G | XP_005269698.1:n.-658-4476A>G | |
| XM_005269643.3:c.-523-4476A>G | XP_005269700.1:n.-523-4476A>G | |
| XM_005269644.3:c.-683+1773A>G | XP_005269701.1:n.-683+1773A>G | |
| XM_005269645.3:c.-682-4476A>G | XP_005269702.1:n.-682-4476A>G | |
| XM_005269646.3:c.-608-4476A>G | XP_005269703.1:n.-608-4476A>G | |
| XM_006717721.2:c.-585+1773A>G | XP_006717784.1:n.-585+1773A>G | |
| XM_006717722.2:c.-480+1773A>G | XP_006717785.1:n.-480+1773A>G | |
| XM_006717723.2:c.-479-4476A>G | XP_006717786.1:n.-479-4476A>G | |
| XM_011539534.1:c.-24-4476A>G | XP_011537836.1:n.-24-4476A>G | |
| XM_011539537.1:c.-25+1727A>G | XP_011537839.1:n.-25+1727A>G | |
| NM_001351169.1:c.-25+1727A>G | NP_001338098.1:n.-25+1727A>G | |
| NM_001351170.1:c.-24-4476A>G | NP_001338099.1:n.-24-4476A>G | |
| NM_001351171.1:c.-25+1773A>G | NP_001338100.1:n.-25+1773A>G | |
| NM_001351172.1:c.-25+1727A>G | NP_001338101.1:n.-25+1727A>G | |
| NM_001351175.1:c.-242+1727A>G | NP_001338104.1:n.-242+1727A>G | |
| NM_001351176.1:c.-584-4476A>G | NP_001338105.1:n.-584-4476A>G | |
| NM_001351177.1:c.-658-4476A>G | NP_001338106.1:n.-658-4476A>G | |
| NM_001351178.1:c.-683+1773A>G | NP_001338107.1:n.-683+1773A>G | |
| NM_001351180.1:c.-715-4476A>G | NP_001338109.1:n.-715-4476A>G | |
| NM_001351181.1:c.-431-4476A>G | NP_001338110.1:n.-431-4476A>G | |
| NM_001351182.1:c.-850-4476A>G | NP_001338111.1:n.-850-4476A>G | |
| NM_001351183.1:c.-523-4476A>G | NP_001338112.1:n.-523-4476A>G | |
| NM_001351184.1:c.-789-4476A>G | NP_001338113.1:n.-789-4476A>G | |
| NM_001351185.1:c.-810-4476A>G | NP_001338114.1:n.-810-4476A>G | |
| NM_001351186.1:c.-874-4476A>G | NP_001338115.1:n.-874-4476A>G | |
| NM_001351187.1:c.-896+1773A>G | NP_001338116.1:n.-896+1773A>G | |
| NM_001351188.1:c.-776-4476A>G | NP_001338117.1:n.-776-4476A>G | |
| NM_001351194.1:c.-705-4476A>G | NP_001338123.1:n.-705-4476A>G | |
| NM_001351195.1:c.-840-4476A>G | NP_001338124.1:n.-840-4476A>G | |
| NM_001351196.1:c.-864-4476A>G | NP_001338125.1:n.-864-4476A>G | |
| NM_001351197.1:c.-659+1773A>G | NP_001338126.1:n.-659+1773A>G | |
| XM_005269645.4:c.-682-4476A>G | XP_005269702.1:n.-682-4476A>G | |
| XM_005269646.4:c.-608-4476A>G | XP_005269703.1:n.-608-4476A>G | |
| XM_006717721.3:c.-585+1773A>G | XP_006717784.1:n.-585+1773A>G | |
| XM_006717723.3:c.-479-4476A>G | XP_006717786.1:n.-479-4476A>G | |
| XM_011539537.2:c.-25+1727A>G | XP_011537839.1:n.-25+1727A>G | |
| XM_017015966.1:c.-736-4476A>G | XP_016871455.1:n.-736-4476A>G | |
| XM_017015967.1:c.-671-4476A>G | XP_016871456.1:n.-671-4476A>G | |
| XM_017015974.1:c.-767+1773A>G | XP_016871463.1:n.-767+1773A>G | |
| XM_024447901.1:c.-25+1727A>G | XP_024303669.1:n.-25+1727A>G | |
| XM_024447904.1:c.-790+1773A>G | XP_024303672.1:n.-790+1773A>G | |
| XM_024447905.1:c.-1471-4476A>G | XP_024303673.1:n.-1471-4476A>G | |
| XM_024447907.1:c.-2421+1727A>G | XP_024303675.1:n.-2421+1727A>G | |
| XM_024447908.1:c.-2482+1773A>G | XP_024303676.1:n.-2482+1773A>G | |
| XM_024447909.1:c.-706+1727A>G | XP_024303677.1:n.-706+1727A>G | |
| XM_024447910.1:c.-706+1773A>G | XP_024303678.1:n.-706+1773A>G | |
| XM_024447911.1:c.-2408+1773A>G | XP_024303679.1:n.-2408+1773A>G | |
| NM_001134373.3:c.-24-4476A>G | NP_001127845.1:n.-24-4476A>G | |
| NM_001351169.2:c.-25+1727A>G MANE Select | NP_001338098.1:n.-25+1727A>G | |
| NM_001351170.2:c.-24-4476A>G | NP_001338099.1:n.-24-4476A>G | |
| NM_001351171.2:c.-25+1773A>G | NP_001338100.1:n.-25+1773A>G | |
| NM_001351172.2:c.-25+1727A>G | NP_001338101.1:n.-25+1727A>G | |
| NM_001351175.2:c.-242+1727A>G | NP_001338104.1:n.-242+1727A>G | |
| NM_001351176.2:c.-584-4476A>G | NP_001338105.1:n.-584-4476A>G | |
| NM_001351177.2:c.-658-4476A>G | NP_001338106.1:n.-658-4476A>G | |
| NM_001351178.2:c.-683+1773A>G | NP_001338107.1:n.-683+1773A>G | |
| NM_001351180.2:c.-715-4476A>G | NP_001338109.1:n.-715-4476A>G | |
| NM_001351181.2:c.-431-4476A>G | NP_001338110.1:n.-431-4476A>G | |
| NM_001351182.2:c.-850-4476A>G | NP_001338111.1:n.-850-4476A>G | |
| NM_001351183.2:c.-523-4476A>G | NP_001338112.1:n.-523-4476A>G | |
| NM_001351184.2:c.-789-4476A>G | NP_001338113.1:n.-789-4476A>G | |
| NM_001351185.2:c.-810-4476A>G | NP_001338114.1:n.-810-4476A>G | |
| NM_001351186.2:c.-874-4476A>G | NP_001338115.1:n.-874-4476A>G | |
| NM_001351187.2:c.-896+1773A>G | NP_001338116.1:n.-896+1773A>G | |
| NM_001351188.2:c.-776-4476A>G | NP_001338117.1:n.-776-4476A>G | |
| NM_001351194.2:c.-705-4476A>G | NP_001338123.1:n.-705-4476A>G | |
| NM_001351195.2:c.-840-4476A>G | NP_001338124.1:n.-840-4476A>G | |
| NM_001351196.2:c.-864-4476A>G | NP_001338125.1:n.-864-4476A>G | |
| NM_001351197.2:c.-659+1773A>G | NP_001338126.1:n.-659+1773A>G | |
| NM_012229.5:c.-25+1773A>G | NP_036361.1:n.-25+1773A>G |