Linked Data
dbSNP Id:
rs747281514
ExAC:
19:46307676 G / A
gnomAD v2:
19-46307676-G-A
gnomAD v3:
19-45804418-G-A
gnomAD v4:
19-45804418-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804418G>A , CM000681.2:g.45804418G>A | GRCh38 |
| NC_000019.9:g.46307676G>A , CM000681.1:g.46307676G>A | GRCh37 |
| NC_000019.8:g.50999516G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1487C>T MANE Select | ENSP00000221538.2:p.Pro496Leu | |
| ENST00000221538.7:c.1487C>T | ENSP00000221538.2:p.Pro496Leu | |
| ENST00000597055.1:c.1487C>T | ENSP00000472630.1:p.Pro496Leu | |
| ENST00000600188.5:c.695C>T | ENSP00000471559.1:p.Pro232Leu | |
| NM_030785.3:c.1487C>T | NP_110412.1:p.Pro496Leu | |
| XM_011527351.1:c.1487C>T | XP_011525653.1:p.Pro496Leu | |
| XM_011527351.2:c.1487C>T | XP_011525653.1:p.Pro496Leu | |
| NM_030785.4:c.1487C>T MANE Select | NP_110412.1:p.Pro496Leu |