Linked Data
ClinVar Variation Id:
1697272
ClinVar RCV Id:
RCV002267655
dbSNP Id:
rs1474851853
gnomAD v2:
7-143039054-A-G
gnomAD v4:
7-143341961-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143341961A>G , CM000669.2:g.143341961A>G | GRCh38 |
| NC_000007.13:g.143039054A>G , CM000669.1:g.143039054A>G | GRCh37 |
| NC_000007.12:g.142749176A>G | NCBI36 |
| NG_009815.1:g.30836A>G | |
| NG_009815.2:g.30836A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1615A>G | ENSP00000498052.2:p.Thr539Ala | |
| ENST00000343257.7:c.1615A>G MANE Select | ENSP00000339867.2:p.Thr539Ala | |
| ENST00000432192.6:c.1439A>G | ||
| ENST00000343257.6:c.1615A>G | ENSP00000339867.2:p.Thr539Ala | |
| NM_000083.2:c.1615A>G | NP_000074.2:p.Thr539Ala | |
| NR_046453.1:n.1555A>G | ||
| XM_011515781.1:c.1639A>G | XP_011514083.1:p.Thr547Ala | |
| XM_011515782.1:c.361A>G | XP_011514084.1:p.Thr121Ala | |
| XM_011515782.2:c.361A>G | XP_011514084.1:p.Thr121Ala | |
| XM_017011739.1:c.1189A>G | XP_016867228.1:p.Thr397Ala | |
| XM_017011740.1:c.1165A>G | XP_016867229.1:p.Thr389Ala | |
| NM_000083.3:c.1615A>G MANE Select | NP_000074.3:p.Thr539Ala | |
| NR_046453.2:n.1570A>G |