Linked Data
dbSNP Id:
rs754691296
ExAC:
14:101200652 G / A
gnomAD v2:
14-101200652-G-A
gnomAD v3:
14-100734315-G-A
gnomAD v4:
14-100734315-G-A
COSMIC:
COSM949320
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100734315G>A , CM000676.2:g.100734315G>A | GRCh38 |
| NC_000014.8:g.101200652G>A , CM000676.1:g.101200652G>A | GRCh37 |
| NC_000014.7:g.100270405G>A | NCBI36 |
| NG_016863.2:g.12451G>A | |
| NG_016863.3:g.12451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341267.9:c.571G>A MANE Select | ENSP00000340292.4:p.Asp191Asn | |
| ENST00000331224.10:c.571G>A | ENSP00000331081.6:p.Asp191Asn | |
| ENST00000341267.8:c.571G>A | ENSP00000340292.4:p.Asp191Asn | |
| NM_003836.5:c.571G>A | NP_003827.3:p.Asp191Asn | |
| NM_001317172.1:c.571G>A | NP_001304101.1:p.Asp191Asn | |
| NM_003836.6:c.571G>A | NP_003827.3:p.Asp191Asn | |
| NM_001317172.2:c.571G>A | NP_001304101.2:p.Asp191Asn | |
| NM_003836.7:c.571G>A MANE Select | NP_003827.4:p.Asp191Asn |