Linked Data
ClinVar Variation Id:
548071
ClinVar RCV Id:
RCV000660708
dbSNP Id:
rs746031928
ExAC:
2:21230269 G / A
gnomAD v2:
2-21230269-G-A
gnomAD v4:
2-21007397-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21007397G>A , CM000664.2:g.21007397G>A | GRCh38 |
| NC_000002.11:g.21230269G>A , CM000664.1:g.21230269G>A | GRCh37 |
| NC_000002.10:g.21083774G>A | NCBI36 |
| NG_011793.1:g.41677C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.9471C>T MANE Select | ENSP00000233242.1:p.Gly3157= | |
| ENST00000616098.4:c.9471C>T | ENSP00000477990.1:p.Gly3157= | |
| NM_000384.2:c.9471C>T | NP_000375.2:p.Gly3157= | |
| XM_011532809.1:c.5869+3336C>T | XP_011531111.1:n.5869+3336C>T | |
| NM_000384.3:c.9471C>T MANE Select | NP_000375.3:p.Gly3157= |