Linked Data
dbSNP Id:
rs756728011
ExAC:
19:46307641 C / T
gnomAD v2:
19-46307641-C-T
gnomAD v4:
19-45804383-C-T
COSMIC:
COSM5898012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804383C>T , CM000681.2:g.45804383C>T | GRCh38 |
| NC_000019.9:g.46307641C>T , CM000681.1:g.46307641C>T | GRCh37 |
| NC_000019.8:g.50999481C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1522G>A MANE Select | ENSP00000221538.2:p.Asp508Asn | |
| ENST00000221538.7:c.1522G>A | ENSP00000221538.2:p.Asp508Asn | |
| ENST00000597055.1:c.1522G>A | ENSP00000472630.1:p.Asp508Asn | |
| ENST00000600188.5:c.730G>A | ENSP00000471559.1:p.Asp244Asn | |
| NM_030785.3:c.1522G>A | NP_110412.1:p.Asp508Asn | |
| XM_011527351.1:c.1522G>A | XP_011525653.1:p.Asp508Asn | |
| XM_011527351.2:c.1522G>A | XP_011525653.1:p.Asp508Asn | |
| NM_030785.4:c.1522G>A MANE Select | NP_110412.1:p.Asp508Asn |