Linked Data
ClinVar Variation Id:
255979
ClinVar RCV Id:
RCV000243074
RCV000337679
RCV000407187
RCV000845575
RCV000985334
RCV001094705
RCV001837799
RCV002401954
dbSNP Id:
rs13306194
ExAC:
2:21252534 G / A
gnomAD v2:
2-21252534-G-A
gnomAD v3:
2-21029662-G-A
gnomAD v4:
2-21029662-G-A
COSMIC:
COSM3682534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21029662G>A , CM000664.2:g.21029662G>A | GRCh38 |
| NC_000002.11:g.21252534G>A , CM000664.1:g.21252534G>A | GRCh37 |
| NC_000002.10:g.21106039G>A | NCBI36 |
| NG_011793.1:g.19412C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*900C>T | ENSP00000501110.2:n.*900C>T | |
| ENST00000673882.2:c.*900C>T | ENSP00000501253.2:n.*900C>T | |
| ENST00000673739.1:c.1308C>T | ENSP00000501110.1:n.1308C>T | |
| ENST00000673882.1:c.1308C>T | ENSP00000501253.1:n.1308C>T | |
| ENST00000233242.5:c.1594C>T MANE Select | ENSP00000233242.1:p.Arg532Trp | |
| ENST00000399256.4:c.1594C>T | ENSP00000382200.4:p.Arg532Trp | |
| ENST00000616098.4:c.1594C>T | ENSP00000477990.1:p.Arg532Trp | |
| NM_000384.2:c.1594C>T | NP_000375.2:p.Arg532Trp | |
| XM_011532809.1:c.1594C>T | XP_011531111.1:p.Arg532Trp | |
| NM_000384.3:c.1594C>T MANE Select | NP_000375.3:p.Arg532Trp |