Linked Data
ClinVar Variation Id:
1243115
ClinVar RCV Id:
RCV001644014
dbSNP Id:
rs162430
gnomAD v2:
17-42030409-G-A
gnomAD v3:
17-43953041-G-A
gnomAD v4:
17-43953041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43953041G>A , CM000679.2:g.43953041G>A | GRCh38 |
| NC_000017.10:g.42030409G>A , CM000679.1:g.42030409G>A | GRCh37 |
| NC_000017.9:g.39385935G>A | NCBI36 |
| NG_023338.1:g.56429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592796.2:c.*64C>T | ENSP00000467310.1:n.*64C>T | |
| ENST00000692052.1:c.270-61C>T MANE Select | ENSP00000509262.1:n.270-61C>T | |
| ENST00000360085.6:c.270-61C>T | ENSP00000353198.1:n.270-61C>T | |
| ENST00000592796.1:c.*64C>T | ENSP00000467310.1:n.*64C>T | |
| NM_004160.4:c.270-61C>T | NP_004151.3:n.270-61C>T | |
| XM_011525035.1:c.270-61C>T | XP_011523337.1:n.270-61C>T | |
| NM_004160.5:c.270-61C>T | NP_004151.3:n.270-61C>T | |
| NM_001394028.1:c.270-61C>T MANE Select | NP_001380957.1:n.270-61C>T | |
| NM_001394029.1:c.*64C>T | NP_001380958.1:n.*64C>T | |
| NM_004160.6:c.270-61C>T | NP_004151.4:n.270-61C>T |