Linked Data
dbSNP Id:
rs13141
ExAC:
12:121756084 G / A
gnomAD v2:
12-121756084-G-A
gnomAD v3:
12-121318281-G-A
gnomAD v4:
12-121318281-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121318281G>A , CM000674.2:g.121318281G>A | GRCh38 |
| NC_000012.11:g.121756084G>A , CM000674.1:g.121756084G>A | GRCh37 |
| NC_000012.10:g.120240467G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261819.8:c.1889C>T MANE Select | ENSP00000261819.3:p.Ala630Val | |
| ENST00000261819.7:c.1889C>T | ENSP00000261819.3:p.Ala630Val | |
| ENST00000441917.6:c.1553C>T | ENSP00000415061.2:p.Ala518Val | |
| ENST00000534976.5:n.2621C>T | ||
| ENST00000535482.1:c.887C>T | ENSP00000438754.1:p.Ala296Val | |
| ENST00000535641.5:n.2100C>T | ||
| ENST00000539079.5:c.1213C>T | ||
| ENST00000541887.5:c.1850C>T | ENSP00000439875.1:p.Ala617Val | |
| ENST00000544314.5:n.1007C>T | ||
| ENST00000545218.5:n.1059C>T | ||
| NM_001137559.1:c.1553C>T | NP_001131031.1:p.Ala518Val | |
| NM_016237.4:c.1889C>T | NP_057321.2:p.Ala630Val | |
| XM_005253900.2:c.1850C>T | XP_005253957.1:p.Ala617Val | |
| XM_006719449.1:c.695C>T | XP_006719512.1:p.Ala232Val | |
| NM_001330489.1:c.1850C>T | NP_001317418.1:p.Ala617Val | |
| XM_017019423.2:c.695C>T | XP_016874912.1:p.Ala232Val | |
| XM_017019424.2:c.695C>T | XP_016874913.1:p.Ala232Val | |
| NM_016237.5:c.1889C>T MANE Select | NP_057321.2:p.Ala630Val | |
| NM_001330489.2:c.1850C>T | NP_001317418.1:p.Ala617Val |