Linked Data
ClinVar Variation Id:
136959
dbSNP Id:
rs78905646
ExAC:
2:189898847 G / A
gnomAD v2:
2-189898847-G-A
gnomAD v3:
2-189034121-G-A
gnomAD v4:
2-189034121-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189034121G>A , CM000664.2:g.189034121G>A | GRCh38 |
| NC_000002.11:g.189898847G>A , CM000664.1:g.189898847G>A | GRCh37 |
| NC_000002.10:g.189607092G>A | NCBI36 |
| NG_011799.1:g.150759C>T | |
| NG_011799.2:g.150759C>T | |
| NG_011799.3:g.196181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4449C>T MANE Select | ENSP00000364000.3:p.Gly1483= | |
| ENST00000374866.7:c.4449C>T | ENSP00000364000.3:p.Gly1483= | |
| ENST00000618828.1:c.3288C>T | ENSP00000482184.1:p.Gly1096= | |
| NM_000393.3:c.4449C>T | NP_000384.2:p.Gly1483= | |
| XM_011510573.1:c.4311C>T | XP_011508875.1:p.Gly1437= | |
| NM_000393.4:c.4449C>T | NP_000384.2:p.Gly1483= | |
| XM_011510573.3:c.4311C>T | XP_011508875.1:p.Gly1437= | |
| NM_000393.5:c.4449C>T MANE Select | NP_000384.2:p.Gly1483= |