Linked Data
dbSNP Id:
rs1446557903
gnomAD v2:
19-7594485-G-A
gnomAD v3:
19-7529599-G-A
gnomAD v4:
19-7529599-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529599G>A , CM000681.2:g.7529599G>A | GRCh38 |
| NC_000019.9:g.7594485G>A , CM000681.1:g.7594485G>A | GRCh37 |
| NC_000019.8:g.7500485G>A | NCBI36 |
| NG_013374.1:g.448G>A | |
| NG_015806.1:g.11990G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1246G>A MANE Select | ENSP00000264079.5:p.Ala416Thr | |
| ENST00000264079.10:c.1246G>A | ENSP00000264079.5:p.Ala416Thr | |
| ENST00000394321.9:n.1561G>A | ||
| ENST00000594692.1:n.242G>A | ||
| ENST00000595860.5:n.429G>A | ||
| ENST00000599334.1:c.123G>A | ||
| NM_020533.2:c.1246G>A | NP_065394.1:p.Ala416Thr | |
| NM_020533.3:c.1246G>A MANE Select | NP_065394.1:p.Ala416Thr |