Linked Data
dbSNP Id:
rs1235111753
gnomAD v2:
13-110844616-G-T
gnomAD v3:
13-110192269-G-T
gnomAD v4:
13-110192269-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110192269G>T , CM000675.2:g.110192269G>T | GRCh38 |
| NC_000013.10:g.110844616G>T , CM000675.1:g.110844616G>T | GRCh37 |
| NC_000013.9:g.109642617G>T | NCBI36 |
| NG_011544.2:g.119881C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.1481C>A MANE Select | ENSP00000364979.4:p.Pro494Gln | |
| ENST00000543140.6:c.1481C>A | ENSP00000443348.1:p.Pro494Gln | |
| ENST00000649738.1:n.1611C>A | ||
| ENST00000375820.8:c.1481C>A | ENSP00000364979.4:p.Pro494Gln | |
| ENST00000543140.5:c.1481C>A | ENSP00000443348.1:p.Pro494Gln | |
| NM_001303110.1:c.1481C>A | NP_001290039.1:p.Pro494Gln | |
| NM_001845.5:c.1481C>A | NP_001836.3:p.Pro494Gln | |
| XM_011521048.1:c.1289C>A | XP_011519350.1:p.Pro430Gln | |
| XM_011521048.2:c.1289C>A | XP_011519350.1:p.Pro430Gln | |
| NM_001845.6:c.1481C>A MANE Select | NP_001836.3:p.Pro494Gln | |
| NM_001303110.2:c.1481C>A | NP_001290039.1:p.Pro494Gln |