Linked Data
ClinVar Variation Id:
414633
ClinVar RCV Id:
RCV000466946
RCV000987249
RCV000613459
RCV002341091
RCV002496819
RCV002254167
RCV003431025
dbSNP Id:
rs151090729
ExAC:
3:38739727 C / T
gnomAD v2:
3-38739727-C-T
gnomAD v3:
3-38698236-C-T
gnomAD v4:
3-38698236-C-T
COSMIC:
COSM3993065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38698236C>T , CM000665.2:g.38698236C>T | GRCh38 |
| NC_000003.11:g.38739727C>T , CM000665.1:g.38739727C>T | GRCh37 |
| NC_000003.10:g.38714731C>T | NCBI36 |
| NG_031891.2:g.100775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.4984G>A MANE Select | ENSP00000390600.2:p.Gly1662Ser | |
| ENST00000643924.1:c.4981G>A | ENSP00000495595.1:p.Gly1661Ser | |
| ENST00000655275.1:c.5008G>A | ENSP00000499510.1:p.Gly1670Ser | |
| ENST00000449082.2:c.4984G>A | ENSP00000390600.2:p.Gly1662Ser | |
| NM_001293306.2:c.4981G>A | NP_001280235.2:p.Gly1661Ser | |
| NM_001293307.2:c.4690G>A | NP_001280236.2:p.Gly1564Ser | |
| NM_006514.3:c.4984G>A | NP_006505.3:p.Gly1662Ser | |
| XM_005265371.2:c.4993G>A | XP_005265428.1:p.Gly1665Ser | |
| XM_011533993.1:c.4990G>A | XP_011532295.1:p.Gly1664Ser | |
| XM_011533994.1:c.4699G>A | XP_011532296.1:p.Gly1567Ser | |
| XM_005265371.3:c.4993G>A | XP_005265428.1:p.Gly1665Ser | |
| XM_011533993.2:c.4990G>A | XP_011532295.1:p.Gly1664Ser | |
| XM_011533994.2:c.4699G>A | XP_011532296.1:p.Gly1567Ser | |
| NM_006514.4:c.4984G>A MANE Select | NP_006505.4:p.Gly1662Ser |