Linked Data
ClinVar Variation Id:
334181
ClinVar RCV Id:
RCV000347148
RCV000391309
RCV001672571
RCV001837880
RCV000771089
RCV002356463
RCV001094710
dbSNP Id:
rs13306198
ExAC:
2:21260084 G / A
gnomAD v2:
2-21260084-G-A
gnomAD v3:
2-21037212-G-A
gnomAD v4:
2-21037212-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21037212G>A , CM000664.2:g.21037212G>A | GRCh38 |
| NC_000002.11:g.21260084G>A , CM000664.1:g.21260084G>A | GRCh37 |
| NC_000002.10:g.21113589G>A | NCBI36 |
| NG_011793.1:g.11862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.427C>T | ENSP00000501110.2:p.Arg143Ter | |
| ENST00000673882.2:c.427C>T | ENSP00000501253.2:p.Arg143Ter | |
| ENST00000673739.1:c.295C>T | ENSP00000501110.1:p.Arg99Ter | |
| ENST00000673882.1:c.295C>T | ENSP00000501253.1:p.Arg99Ter | |
| ENST00000233242.5:c.581C>T MANE Select | ENSP00000233242.1:p.Thr194Met | |
| ENST00000399256.4:c.581C>T | ENSP00000382200.4:p.Thr194Met | |
| ENST00000616098.4:c.581C>T | ENSP00000477990.1:p.Thr194Met | |
| NM_000384.2:c.581C>T | NP_000375.2:p.Thr194Met | |
| XM_011532809.1:c.581C>T | XP_011531111.1:p.Thr194Met | |
| NM_000384.3:c.581C>T MANE Select | NP_000375.3:p.Thr194Met |