Linked Data
ClinVar Variation Id:
1375503
ClinVar RCV Id:
RCV001879699
dbSNP Id:
rs780614363
ExAC:
15:38591599 G / C
gnomAD v2:
15-38591599-G-C
gnomAD v4:
15-38299398-G-C
COSMIC:
COSM5016883
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299398G>C , CM000677.2:g.38299398G>C | GRCh38 |
| NC_000015.9:g.38591599G>C , CM000677.1:g.38591599G>C | GRCh37 |
| NC_000015.8:g.36378891G>C | NCBI36 |
| NG_008980.1:g.51548G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.58G>C MANE Select | ENSP00000299084.4:p.Val20Leu | |
| ENST00000299084.8:c.58G>C | ENSP00000299084.4:p.Val20Leu | |
| ENST00000561205.1:n.396G>C | ||
| ENST00000561317.1:c.-6G>C | ENSP00000453680.1:n.-6G>C | |
| NM_152594.2:c.58G>C | NP_689807.1:p.Val20Leu | |
| XM_005254202.2:c.94G>C | XP_005254259.1:p.Val32Leu | |
| XM_005254203.3:c.-15-22843G>C | XP_005254260.1:n.-15-22843G>C | |
| XM_011521288.1:c.-6G>C | XP_011519590.1:n.-6G>C | |
| XM_011521289.1:c.-6G>C | XP_011519591.1:n.-6G>C | |
| XM_011521290.1:c.-6G>C | XP_011519592.1:n.-6G>C | |
| XM_005254202.3:c.94G>C | XP_005254259.1:p.Val32Leu | |
| XM_011521289.3:c.-6G>C | XP_011519591.1:n.-6G>C | |
| NM_152594.3:c.58G>C MANE Select | NP_689807.1:p.Val20Leu |