Linked Data
ClinVar Variation Id:
1908775
ClinVar RCV Id:
RCV002596753
dbSNP Id:
rs762457418
ExAC:
12:109994934 C / T
gnomAD v2:
12-109994934-C-T
gnomAD v4:
12-109557129-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557129C>T , CM000674.2:g.109557129C>T | GRCh38 |
| NC_000012.11:g.109994934C>T , CM000674.1:g.109994934C>T | GRCh37 |
| NC_000012.10:g.108479317C>T | NCBI36 |
| NG_007096.1:g.21369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.652G>A MANE Select | ENSP00000445920.1:p.Asp218Asn | |
| ENST00000537496.5:c.*217G>A | ENSP00000444793.1:n.*217G>A | |
| ENST00000540016.5:c.496G>A | ENSP00000474582.1:p.Asp166Asn | |
| ENST00000541763.6:c.877G>A | ENSP00000474981.1:n.877G>A | |
| ENST00000544051.5:c.*533G>A | ENSP00000438079.1:n.*533G>A | |
| ENST00000545712.6:c.652G>A | ENSP00000445920.1:p.Asp218Asn | |
| NM_052845.3:c.652G>A | NP_443077.1:p.Asp218Asn | |
| NR_038118.1:n.812G>A | ||
| XM_011538266.1:c.497G>A | XP_011536568.1:p.Ter166= | |
| XM_011538267.1:c.497G>A | XP_011536569.1:p.Ter166= | |
| XM_011538268.1:c.379G>A | XP_011536570.1:p.Asp127Asn | |
| XM_011538269.1:c.376G>A | XP_011536571.1:p.Asp126Asn | |
| XM_011538267.3:c.497G>A | XP_011536569.1:p.Ter166= | |
| XM_011538268.2:c.379G>A | XP_011536570.1:p.Asp127Asn | |
| XM_011538269.2:c.376G>A | XP_011536571.1:p.Asp126Asn | |
| NM_052845.4:c.652G>A MANE Select | NP_443077.1:p.Asp218Asn | |
| NR_038118.2:n.763G>A |