Linked Data
ClinVar Variation Id:
514991
ClinVar RCV Id:
RCV000607911
dbSNP Id:
rs531379531
ExAC:
9:72000736 C / T
gnomAD v2:
9-72000736-C-T
gnomAD v3:
9-69385820-C-T
gnomAD v4:
9-69385820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69385820C>T , CM000671.2:g.69385820C>T | GRCh38 |
| NC_000009.11:g.72000736C>T , CM000671.1:g.72000736C>T | GRCh37 |
| NC_000009.10:g.71190556C>T | NCBI36 |
| NG_052888.1:g.66249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303068.14:c.1188C>T MANE Select | ENSP00000304435.8:p.Ala396= | |
| ENST00000303068.13:c.1188C>T | ENSP00000304435.8:p.Ala396= | |
| ENST00000377216.4:c.*406C>T | ENSP00000366422.4:n.*406C>T | |
| ENST00000455972.6:c.729C>T | ENSP00000395675.1:p.Ala243= | |
| ENST00000469179.2:n.522C>T | ||
| ENST00000643727.1:n.776C>T | ||
| ENST00000645123.1:n.4181C>T | ||
| ENST00000645516.1:n.560C>T | ||
| ENST00000257515.12:c.729C>T | ENSP00000257515.8:p.Ala243= | |
| ENST00000303068.11:c.234C>T | ENSP00000304435.7:p.Ala78= | |
| ENST00000455972.5:c.729C>T | ENSP00000395675.1:p.Ala243= | |
| ENST00000460871.1:n.559C>T | ||
| ENST00000469179.1:n.1C>T | ||
| NM_001127608.1:c.729C>T | NP_001121080.1:p.Ala243= | |
| NM_004816.3:c.729C>T | NP_004807.3:p.Ala243= | |
| XM_005252307.3:c.1188C>T | XP_005252364.1:p.Ala396= | |
| NM_001127608.2:c.729C>T | NP_001121080.1:p.Ala243= | |
| NM_001347995.1:c.1188C>T | NP_001334924.1:p.Ala396= | |
| NM_004816.4:c.729C>T | NP_004807.3:p.Ala243= | |
| XM_017015324.1:c.801C>T | XP_016870813.1:p.Ala267= | |
| XM_017015325.1:c.729C>T | XP_016870814.1:p.Ala243= | |
| XM_024447718.1:c.729C>T | XP_024303486.1:p.Ala243= | |
| XR_001746421.1:n.833C>T | ||
| NM_001127608.3:c.729C>T | NP_001121080.1:p.Ala243= | |
| NM_001347995.2:c.1188C>T MANE Select | NP_001334924.1:p.Ala396= | |
| NM_004816.5:c.729C>T | NP_004807.3:p.Ala243= | |
| NR_170669.1:n.824C>T |