Linked Data
ClinVar Variation Id:
506666
dbSNP Id:
rs151182542
ExAC:
3:38743331 C / T
gnomAD v2:
3-38743331-C-T
gnomAD v3:
3-38701840-C-T
gnomAD v4:
3-38701840-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38701840C>T , CM000665.2:g.38701840C>T | GRCh38 |
| NC_000003.11:g.38743331C>T , CM000665.1:g.38743331C>T | GRCh37 |
| NC_000003.10:g.38718335C>T | NCBI36 |
| NG_031891.2:g.97171G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.4656G>A MANE Select | ENSP00000390600.2:p.Ala1552= | |
| ENST00000643924.1:c.4653G>A | ENSP00000495595.1:p.Ala1551= | |
| ENST00000655275.1:c.4680G>A | ENSP00000499510.1:p.Ala1560= | |
| ENST00000449082.2:c.4656G>A | ENSP00000390600.2:p.Ala1552= | |
| NM_001293306.2:c.4653G>A | NP_001280235.2:p.Ala1551= | |
| NM_001293307.2:c.4362G>A | NP_001280236.2:p.Ala1454= | |
| NM_006514.3:c.4656G>A | NP_006505.3:p.Ala1552= | |
| XM_005265371.2:c.4665G>A | XP_005265428.1:p.Ala1555= | |
| XM_011533993.1:c.4662G>A | XP_011532295.1:p.Ala1554= | |
| XM_011533994.1:c.4371G>A | XP_011532296.1:p.Ala1457= | |
| XM_005265371.3:c.4665G>A | XP_005265428.1:p.Ala1555= | |
| XM_011533993.2:c.4662G>A | XP_011532295.1:p.Ala1554= | |
| XM_011533994.2:c.4371G>A | XP_011532296.1:p.Ala1457= | |
| NM_006514.4:c.4656G>A MANE Select | NP_006505.4:p.Ala1552= |