Linked Data
ClinVar Variation Id:
16528
dbSNP Id:
rs121913068
ExAC:
6:6175056 C / T
gnomAD v2:
6-6175056-C-T
gnomAD v3:
6-6174823-C-T
gnomAD v4:
6-6174823-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6174823C>T , CM000668.2:g.6174823C>T | GRCh38 |
| NC_000006.11:g.6175056C>T , CM000668.1:g.6175056C>T | GRCh37 |
| NC_000006.10:g.6120055C>T | NCBI36 |
| NG_008107.1:g.150869G>A , LRG_549:g.150869G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.1504G>A MANE Select | ENSP00000264870.3:p.Gly502Arg | |
| ENST00000264870.7:c.1504G>A | ENSP00000264870.3:p.Gly502Arg | |
| NM_000129.3:c.1504G>A , LRG_549t1:c.1504G>A | NP_000120.2:p.Gly502Arg | |
| XM_006715010.2:c.1504G>A | XP_006715073.1:p.Gly502Arg | |
| XM_011514342.1:c.1666G>A | XP_011512644.1:p.Gly556Arg | |
| NM_000129.4:c.1504G>A MANE Select | NP_000120.2:p.Gly502Arg |