Linked Data
dbSNP Id:
rs764589379
ExAC:
3:119133022 T / A
gnomAD v2:
3-119133022-T-A
gnomAD v4:
3-119414175-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414175T>A , CM000665.2:g.119414175T>A | GRCh38 |
| NC_000003.11:g.119133022T>A , CM000665.1:g.119133022T>A | GRCh37 |
| NC_000003.10:g.120615712T>A | NCBI36 |
| NG_007665.2:g.124803T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2246T>A MANE Select | ENSP00000264245.4:p.Leu749His | |
| ENST00000264245.8:c.2246T>A | ENSP00000264245.4:p.Leu749His | |
| NM_020754.3:c.2246T>A | NP_065805.2:p.Leu749His | |
| XM_005247671.3:c.2153T>A | XP_005247728.1:p.Leu718His | |
| XM_006713714.2:c.2186T>A | XP_006713777.1:p.Leu729His | |
| XM_006713714.3:c.2186T>A | XP_006713777.1:p.Leu729His | |
| XM_017006955.1:c.1754T>A | XP_016862444.1:p.Leu585His | |
| NM_020754.4:c.2246T>A MANE Select | NP_065805.2:p.Leu749His |