Linked Data
ClinVar Variation Id:
199684
ClinVar RCV Id:
RCV000497215
RCV000776488
RCV000845454
RCV001138594
RCV001138595
RCV001837744
RCV002390448
dbSNP Id:
rs12714214
ExAC:
2:21251367 G / A
gnomAD v2:
2-21251367-G-A
gnomAD v3:
2-21028495-G-A
gnomAD v4:
2-21028495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21028495G>A , CM000664.2:g.21028495G>A | GRCh38 |
| NC_000002.11:g.21251367G>A , CM000664.1:g.21251367G>A | GRCh37 |
| NC_000002.10:g.21104872G>A | NCBI36 |
| NG_011793.1:g.20579C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673739.2:c.*967C>T | ENSP00000501110.2:n.*967C>T | |
| ENST00000673882.2:c.*967C>T | ENSP00000501253.2:n.*967C>T | |
| ENST00000673739.1:c.1375C>T | ENSP00000501110.1:n.1375C>T | |
| ENST00000673882.1:c.1375C>T | ENSP00000501253.1:n.1375C>T | |
| ENST00000233242.5:c.1661C>T MANE Select | ENSP00000233242.1:p.Pro554Leu | |
| ENST00000399256.4:c.1661C>T | ENSP00000382200.4:p.Pro554Leu | |
| ENST00000616098.4:c.1661C>T | ENSP00000477990.1:p.Pro554Leu | |
| NM_000384.2:c.1661C>T | NP_000375.2:p.Pro554Leu | |
| XM_011532809.1:c.1661C>T | XP_011531111.1:p.Pro554Leu | |
| NM_000384.3:c.1661C>T MANE Select | NP_000375.3:p.Pro554Leu |