Linked Data
dbSNP Id:
rs1404428020
gnomAD v2:
10-50708732-T-C
gnomAD v3:
10-49500686-T-C
gnomAD v4:
10-49500686-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49500686T>C , CM000672.2:g.49500686T>C | GRCh38 |
| NC_000010.10:g.50708732T>C , CM000672.1:g.50708732T>C | GRCh37 |
| NC_000010.9:g.50378738T>C | NCBI36 |
| NG_009442.1:g.43416A>G , LRG_465:g.43416A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.1537A>G MANE Select | ENSP00000348089.5:p.Thr513Ala | |
| ENST00000681632.1:n.1615A>G | ||
| ENST00000681659.1:c.1526+5198A>G | ENSP00000505631.1:n.1526+5198A>G | |
| ENST00000355832.9:c.1537A>G | ENSP00000348089.5:p.Thr513Ala | |
| ENST00000475116.1:n.127A>G | ||
| ENST00000623073.3:c.-63A>G | ENSP00000485650.1:n.-63A>G | |
| ENST00000623115.3:c.-218A>G | ENSP00000485321.1:n.-218A>G | |
| ENST00000623318.1:c.-63A>G | ENSP00000485423.1:n.-63A>G | |
| ENST00000623788.1:n.536A>G | ||
| NM_000124.3:c.1537A>G | NP_000115.1:p.Thr513Ala | |
| NM_001346440.1:c.1537A>G | NP_001333369.1:p.Thr513Ala | |
| NM_000124.4:c.1537A>G MANE Select | NP_000115.1:p.Thr513Ala | |
| NM_001346440.2:c.1537A>G | NP_001333369.1:p.Thr513Ala |