Linked Data
dbSNP Id:
rs2847281
gnomAD v2:
18-12821593-A-G
gnomAD v3:
18-12821594-A-G
gnomAD v4:
18-12821594-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12821594A>G , CM000680.2:g.12821594A>G | GRCh38 |
| NC_000018.9:g.12821593A>G , CM000680.1:g.12821593A>G | GRCh37 |
| NC_000018.8:g.12811593A>G | NCBI36 |
| NG_029116.1:g.67742T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309660.10:c.495+4216T>C MANE Select | ENSP00000311857.3:n.495+4216T>C | |
| ENST00000645191.1:c.198+4216T>C | ENSP00000493693.1:n.198+4216T>C | |
| ENST00000645816.1:c.496-169T>C | ENSP00000494336.1:n.496-169T>C | |
| ENST00000646492.1:c.198+4216T>C | ENSP00000496181.1:n.198+4216T>C | |
| ENST00000309660.9:c.495+4216T>C | ENSP00000311857.3:n.495+4216T>C | |
| ENST00000327283.7:c.495+4216T>C | ENSP00000320298.3:n.495+4216T>C | |
| ENST00000353319.8:c.495+4216T>C | ENSP00000320546.3:n.495+4216T>C | |
| ENST00000587703.5:c.133+9349T>C | ||
| ENST00000589216.1:c.*275+4216T>C | ENSP00000468408.1:n.*275+4216T>C | |
| ENST00000591115.5:c.496-2312T>C | ENSP00000466936.1:n.496-2312T>C | |
| ENST00000591305.5:c.*141-4229T>C | ENSP00000468012.1:n.*141-4229T>C | |
| ENST00000591497.5:c.408+4216T>C | ENSP00000467823.1:n.408+4216T>C | |
| ENST00000592776.1:c.495+4216T>C | ENSP00000468155.1:n.495+4216T>C | |
| NM_001207013.1:c.496-2312T>C | NP_001193942.1:n.496-2312T>C | |
| NM_001308287.1:c.408+4216T>C | NP_001295216.1:n.408+4216T>C | |
| NM_002828.3:c.495+4216T>C | NP_002819.2:n.495+4216T>C | |
| NM_080422.2:c.495+4216T>C | NP_536347.1:n.495+4216T>C | |
| NM_080423.2:c.495+4216T>C | NP_536348.1:n.495+4216T>C | |
| XM_005258124.2:c.496-2312T>C | XP_005258181.1:n.496-2312T>C | |
| XM_005258125.2:c.496-2312T>C | XP_005258182.1:n.496-2312T>C | |
| XM_011525705.1:c.409-2312T>C | XP_011524007.1:n.409-2312T>C | |
| XM_011525706.1:c.361-4229T>C | XP_011524008.1:n.361-4229T>C | |
| XM_005258124.4:c.496-2312T>C | XP_005258181.1:n.496-2312T>C | |
| XM_005258125.4:c.496-2312T>C | XP_005258182.1:n.496-2312T>C | |
| XM_011525705.3:c.409-2312T>C | XP_011524007.1:n.409-2312T>C | |
| XM_011525706.2:c.361-4229T>C | XP_011524008.1:n.361-4229T>C | |
| XM_017025884.1:c.495+4216T>C | XP_016881373.1:n.495+4216T>C | |
| XM_017025885.2:c.408+4216T>C | XP_016881374.1:n.408+4216T>C | |
| XM_017025886.1:c.198+4216T>C | XP_016881375.1:n.198+4216T>C | |
| XM_017025887.2:c.198+4216T>C | XP_016881376.1:n.198+4216T>C | |
| XM_017025888.2:c.198+4216T>C | XP_016881377.1:n.198+4216T>C | |
| XM_024451228.1:c.361-4229T>C | XP_024306996.1:n.361-4229T>C | |
| XM_024451229.1:c.198+4216T>C | XP_024306997.1:n.198+4216T>C | |
| XM_024451230.1:c.198+4216T>C | XP_024306998.1:n.198+4216T>C | |
| NM_002828.4:c.495+4216T>C MANE Select | NP_002819.2:n.495+4216T>C | |
| NM_001207013.2:c.496-2312T>C | NP_001193942.1:n.496-2312T>C | |
| NM_080422.3:c.495+4216T>C | NP_536347.1:n.495+4216T>C | |
| NM_080423.3:c.495+4216T>C | NP_536348.1:n.495+4216T>C |