Linked Data
ClinVar Variation Id:
200486
dbSNP Id:
rs752686806
gnomAD v2:
7-150644940-C-T
gnomAD v4:
7-150947852-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947852C>T , CM000669.2:g.150947852C>T | GRCh38 |
| NC_000007.13:g.150644940C>T , CM000669.1:g.150644940C>T | GRCh37 |
| NC_000007.12:g.150275873C>T | NCBI36 |
| NG_008916.1:g.35075G>A , LRG_288:g.35075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3552G>A | ||
| ENST00000262186.10:c.2719G>A MANE Select | ENSP00000262186.5:p.Ala907Thr | |
| ENST00000330883.9:c.1699G>A | ENSP00000328531.4:p.Ala567Thr | |
| ENST00000262186.9:c.2719G>A | ENSP00000262186.5:p.Ala907Thr | |
| ENST00000330883.8:c.1699G>A | ENSP00000328531.4:p.Ala567Thr | |
| NM_000238.3:c.2719G>A , LRG_288t1:c.2719G>A | NP_000229.1:p.Ala907Thr | |
| NM_172057.2:c.1699G>A , LRG_288t3:c.1699G>A | NP_742054.1:p.Ala567Thr | |
| XM_011516185.1:c.2419G>A | XP_011514487.1:p.Ala807Thr | |
| XM_011516186.1:c.2693-161G>A | XP_011514488.1:n.2693-161G>A | |
| XM_011516185.2:c.2419G>A | XP_011514487.1:p.Ala807Thr | |
| XM_011516186.3:c.2693-161G>A | XP_011514488.1:n.2693-161G>A | |
| XM_017012195.1:c.2569G>A | XP_016867684.1:p.Ala857Thr | |
| XM_017012196.1:c.2542G>A | XP_016867685.1:p.Ala848Thr | |
| NM_000238.4:c.2719G>A MANE Select | NP_000229.1:p.Ala907Thr | |
| NM_172057.3:c.1699G>A | NP_742054.1:p.Ala567Thr |