Linked Data
dbSNP Id:
rs4712524
gnomAD v2:
6-20657865-A-G
gnomAD v3:
6-20657634-A-G
gnomAD v4:
6-20657634-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.20657634A>G , CM000668.2:g.20657634A>G | GRCh38 |
| NC_000006.11:g.20657865A>G , CM000668.1:g.20657865A>G | GRCh37 |
| NC_000006.10:g.20765844A>G | NCBI36 |
| NG_021195.1:g.128178A>G | |
| NG_021195.2:g.128178A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274695.8:c.371+8257A>G MANE Select | ENSP00000274695.4:n.371+8257A>G | |
| ENST00000378610.1:c.371+8257A>G | ENSP00000367873.1:n.371+8257A>G | |
| NM_017774.3:c.371+8257A>G MANE Select | NP_060244.2:n.371+8257A>G | |
| XM_006715128.2:c.371+8257A>G | XP_006715191.1:n.371+8257A>G | |
| XM_011514718.1:c.371+8257A>G | XP_011513020.1:n.371+8257A>G | |
| XM_011514719.1:c.371+8257A>G | XP_011513021.1:n.371+8257A>G | |
| XR_926265.1:n.538+8257A>G | ||
| XR_926266.1:n.651+8257A>G | ||
| XR_926267.1:n.538+8257A>G | ||
| XM_011514719.2:c.371+8257A>G | XP_011513021.1:n.371+8257A>G | |
| XM_017010986.1:c.371+8257A>G | XP_016866475.1:n.371+8257A>G | |
| XM_017010987.1:c.-384+8257A>G | XP_016866476.1:n.-384+8257A>G | |
| XM_024446481.1:c.371+8257A>G | XP_024302249.1:n.371+8257A>G | |
| XR_001743495.2:n.543+8257A>G | ||
| XR_001743496.2:n.938+8257A>G | ||
| XR_001743500.1:n.538+8257A>G | ||
| XR_001743501.1:n.538+8257A>G | ||
| XR_926265.2:n.538+8257A>G | ||
| XR_926266.2:n.651+8257A>G | ||
| XR_926267.2:n.538+8257A>G |