Linked Data
dbSNP Id:
rs1312405780
gnomAD v2:
7-137776586-G-A
gnomAD v4:
7-138091840-G-A
COSMIC:
COSM222144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138091840G>A , CM000669.2:g.138091840G>A | GRCh38 |
| NC_000007.13:g.137776586G>A , CM000669.1:g.137776586G>A | GRCh37 |
| NC_000007.12:g.137427126G>A | NCBI36 |
| NG_023342.1:g.20409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242375.8:c.334G>A MANE Select | ENSP00000242375.3:p.Asp112Asn | |
| ENST00000242375.7:c.334G>A | ENSP00000242375.3:p.Asp112Asn | |
| ENST00000411726.6:c.334G>A | ENSP00000402374.2:p.Asp112Asn | |
| ENST00000432161.5:c.334G>A | ENSP00000389197.1:p.Asp112Asn | |
| ENST00000438242.1:c.166G>A | ENSP00000397042.1:p.Asp56Asn | |
| ENST00000468877.2:n.244G>A | ||
| NM_001190906.1:c.334G>A | NP_001177835.1:p.Asp112Asn | |
| NM_001190907.1:c.334G>A | NP_001177836.1:p.Asp112Asn | |
| NM_005989.3:c.334G>A | NP_005980.1:p.Asp112Asn | |
| NM_005989.4:c.334G>A MANE Select | NP_005980.1:p.Asp112Asn | |
| NM_001190906.2:c.334G>A | NP_001177835.1:p.Asp112Asn | |
| NM_001190907.2:c.334G>A | NP_001177836.1:p.Asp112Asn |