Linked Data
dbSNP Id:
rs367769124
ExAC:
2:55907983 T / A
gnomAD v2:
2-55907983-T-A
gnomAD v3:
2-55680848-T-A
gnomAD v4:
2-55680848-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55680848T>A , CM000664.2:g.55680848T>A | GRCh38 |
| NC_000002.11:g.55907983T>A , CM000664.1:g.55907983T>A | GRCh37 |
| NC_000002.10:g.55761487T>A | NCBI36 |
| NG_033012.1:g.18063A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.517+7A>T MANE Select | ENSP00000400646.2:n.517+7A>T | |
| ENST00000260604.8:c.524A>T | ENSP00000260604.4:p.Tyr175Phe | |
| ENST00000415374.5:c.517+7A>T | ENSP00000393953.1:n.517+7A>T | |
| ENST00000429805.1:c.*165+7A>T | ENSP00000411994.1:n.*165+7A>T | |
| ENST00000447944.6:c.517+7A>T | ENSP00000400646.2:n.517+7A>T | |
| NM_033109.4:c.517+7A>T | NP_149100.2:n.517+7A>T | |
| XM_005264629.1:c.277+7A>T | XP_005264686.1:n.277+7A>T | |
| XM_011533142.1:c.517+7A>T | XP_011531444.1:n.517+7A>T | |
| XM_005264629.2:c.277+7A>T | XP_005264686.1:n.277+7A>T | |
| XM_017005172.1:c.277+7A>T | XP_016860661.1:n.277+7A>T | |
| XR_001739010.1:n.547+7A>T | ||
| NM_033109.5:c.517+7A>T MANE Select | NP_149100.2:n.517+7A>T |