Linked Data
ClinVar Variation Id:
137733
dbSNP Id:
rs200908079
ExAC:
9:135776958 T / G
gnomAD v2:
9-135776958-T-G
gnomAD v3:
9-132901571-T-G
gnomAD v4:
9-132901571-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132901571T>G , CM000671.2:g.132901571T>G | GRCh38 |
| NC_000009.11:g.135776958T>G , CM000671.1:g.135776958T>G | GRCh37 |
| NC_000009.10:g.134766779T>G | NCBI36 |
| NG_012386.1:g.48063A>C , LRG_486:g.48063A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2499+18A>C | ENSP00000496126.2:n.2499+18A>C | |
| ENST00000490179.4:c.2502+18A>C | ENSP00000495533.2:n.2502+18A>C | |
| ENST00000642261.2:c.*281+18A>C | ENSP00000494743.2:n.*281+18A>C | |
| ENST00000643275.2:c.*442+18A>C | ENSP00000495598.2:n.*442+18A>C | |
| ENST00000643362.2:c.2115+18A>C | ENSP00000496398.2:n.2115+18A>C | |
| ENST00000643625.2:c.*244+18A>C | ENSP00000495546.2:n.*244+18A>C | |
| ENST00000643691.2:c.2139+18A>C | ENSP00000494916.2:n.2139+18A>C | |
| ENST00000644184.2:c.2460+60A>C | ENSP00000495428.2:n.2460+60A>C | |
| ENST00000645129.2:c.2346+18A>C | ENSP00000493639.2:n.2346+18A>C | |
| ENST00000646440.2:c.2502+18A>C | ENSP00000495830.2:n.2502+18A>C | |
| ENST00000298552.9:c.2502+18A>C MANE Select | ENSP00000298552.3:n.2502+18A>C | |
| ENST00000642261.1:c.562+18A>C | ||
| ENST00000642617.1:c.2499+18A>C | ENSP00000493773.1:n.2499+18A>C | |
| ENST00000642627.1:c.2484+18A>C | ENSP00000496772.1:n.2484+18A>C | |
| ENST00000642811.1:c.*2272+18A>C | ENSP00000495554.1:n.*2272+18A>C | |
| ENST00000643072.1:c.2349+18A>C | ENSP00000496691.1:n.2349+18A>C | |
| ENST00000643275.1:c.976+18A>C | ENSP00000495598.1:n.976+18A>C | |
| ENST00000643583.1:c.2487+18A>C | ENSP00000494685.1:n.2487+18A>C | |
| ENST00000643625.1:c.379+18A>C | ENSP00000495546.1:n.379+18A>C | |
| ENST00000643875.1:c.2502+18A>C | ENSP00000495158.1:n.2502+18A>C | |
| ENST00000644097.1:c.2499+18A>C | ENSP00000494682.1:n.2499+18A>C | |
| ENST00000644184.1:c.1197+60A>C | ENSP00000495428.1:n.1197+60A>C | |
| ENST00000644255.1:c.*2269+18A>C | ENSP00000493608.1:n.*2269+18A>C | |
| ENST00000644319.1:n.2877+18A>C | ||
| ENST00000644786.1:n.161+18A>C | ||
| ENST00000644882.1:n.1415+60A>C | ||
| ENST00000645901.1:n.3353+18A>C | ||
| ENST00000646391.1:c.*2272+18A>C | ENSP00000494104.1:n.*2272+18A>C | |
| ENST00000646625.1:c.2502+18A>C | ENSP00000496263.1:n.2502+18A>C | |
| ENST00000647262.1:n.1467+18A>C | ||
| ENST00000647279.1:c.*1741+18A>C | ENSP00000494502.1:n.*1741+18A>C | |
| ENST00000647506.1:n.3378+18A>C | ||
| ENST00000647534.1:n.1566+18A>C | ||
| ENST00000298552.7:c.2502+18A>C | ENSP00000298552.3:n.2502+18A>C | |
| ENST00000440111.6:c.2502+18A>C | ENSP00000394524.2:n.2502+18A>C | |
| ENST00000545250.5:c.2349+18A>C | ENSP00000444017.1:n.2349+18A>C | |
| NM_000368.4:c.2502+18A>C , LRG_486t1:c.2502+18A>C | NP_000359.1:n.2502+18A>C | |
| NM_001162426.1:c.2499+18A>C | NP_001155898.1:n.2499+18A>C | |
| NM_001162427.1:c.2349+18A>C | NP_001155899.1:n.2349+18A>C | |
| XM_005272211.1:c.2502+18A>C | XP_005272268.1:n.2502+18A>C | |
| XM_006717271.1:c.2502+18A>C | XP_006717334.1:n.2502+18A>C | |
| XM_011518979.1:c.2502+18A>C | XP_011517281.1:n.2502+18A>C | |
| NM_001362177.1:c.2139+18A>C | NP_001349106.1:n.2139+18A>C | |
| XM_011518979.2:c.2502+18A>C | XP_011517281.1:n.2502+18A>C | |
| XM_017015096.1:c.2502+18A>C | XP_016870585.1:n.2502+18A>C | |
| XM_017015097.1:c.2502+18A>C | XP_016870586.1:n.2502+18A>C | |
| XM_017015098.1:c.2499+18A>C | XP_016870587.1:n.2499+18A>C | |
| XM_017015100.1:c.2139+18A>C | XP_016870589.1:n.2139+18A>C | |
| XM_017015101.1:c.2136+18A>C | XP_016870590.1:n.2136+18A>C | |
| NM_000368.5:c.2502+18A>C MANE Select | NP_000359.1:n.2502+18A>C | |
| NM_001162426.2:c.2499+18A>C | NP_001155898.1:n.2499+18A>C | |
| NM_001162427.2:c.2349+18A>C | NP_001155899.1:n.2349+18A>C | |
| NM_001362177.2:c.2139+18A>C | NP_001349106.1:n.2139+18A>C |