Linked Data
dbSNP Id:
rs762413474
ExAC:
2:163138890 C / T
gnomAD v2:
2-163138890-C-T
gnomAD v4:
2-162282380-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162282380C>T , CM000664.2:g.162282380C>T | GRCh38 |
| NC_000002.11:g.163138890C>T , CM000664.1:g.163138890C>T | GRCh37 |
| NC_000002.10:g.162847136C>T | NCBI36 |
| NG_011495.1:g.41150G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*889G>A | ENSP00000513228.1:n.*889G>A | |
| ENST00000648433.1:c.1292G>A | ENSP00000496816.1:p.Gly431Asp | |
| ENST00000649554.1:n.902G>A | ||
| ENST00000649979.2:c.1292G>A MANE Select | ENSP00000497271.1:p.Gly431Asp | |
| ENST00000679938.1:c.980G>A | ENSP00000505518.1:p.Gly327Asp | |
| ENST00000263642.2:c.1292G>A | ENSP00000263642.2:p.Gly431Asp | |
| NM_022168.3:c.1292G>A | NP_071451.2:p.Gly431Asp | |
| XM_011511628.1:c.575G>A | XP_011509930.1:p.Gly192Asp | |
| XM_011511629.1:c.1292G>A | XP_011509931.1:p.Gly431Asp | |
| NM_022168.4:c.1292G>A MANE Select | NP_071451.2:p.Gly431Asp |