Linked Data
dbSNP Id:
rs758163053
ExAC:
19:7598448 G / T
gnomAD v2:
19-7598448-G-T
gnomAD v3:
19-7533562-G-T
gnomAD v4:
19-7533562-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533562G>T , CM000681.2:g.7533562G>T | GRCh38 |
| NC_000019.9:g.7598448G>T , CM000681.1:g.7598448G>T | GRCh37 |
| NC_000019.8:g.7504448G>T | NCBI36 |
| NG_013374.1:g.4411G>T | |
| NG_015806.1:g.15953G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1615G>T MANE Select | ENSP00000264079.5:p.Ala539Ser | |
| ENST00000264079.10:c.1615G>T | ENSP00000264079.5:p.Ala539Ser | |
| ENST00000394321.9:n.1930G>T | ||
| ENST00000599334.1:c.343G>T | ||
| ENST00000602227.1:n.169G>T | ||
| NM_020533.2:c.1615G>T | NP_065394.1:p.Ala539Ser | |
| NM_020533.3:c.1615G>T MANE Select | NP_065394.1:p.Ala539Ser |