Linked Data
ClinVar Variation Id:
200460
ClinVar RCV Id:
RCV002426874
dbSNP Id:
rs794728393
gnomAD v4:
7-150948954-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948954T>A , CM000669.2:g.150948954T>A | GRCh38 |
| NC_000007.13:g.150646042T>A , CM000669.1:g.150646042T>A | GRCh37 |
| NC_000007.12:g.150276975T>A | NCBI36 |
| NG_008916.1:g.33973A>T , LRG_288:g.33973A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3327A>T | ||
| ENST00000262186.10:c.2494A>T MANE Select | ENSP00000262186.5:p.Lys832Ter | |
| ENST00000330883.9:c.1474A>T | ENSP00000328531.4:p.Lys492Ter | |
| ENST00000262186.9:c.2494A>T | ENSP00000262186.5:p.Lys832Ter | |
| ENST00000330883.8:c.1474A>T | ENSP00000328531.4:p.Lys492Ter | |
| NM_000238.3:c.2494A>T , LRG_288t1:c.2494A>T | NP_000229.1:p.Lys832Ter | |
| NM_172057.2:c.1474A>T , LRG_288t3:c.1474A>T | NP_742054.1:p.Lys492Ter | |
| XM_011516185.1:c.2194A>T | XP_011514487.1:p.Lys732Ter | |
| XM_011516186.1:c.2494A>T | XP_011514488.1:p.Lys832Ter | |
| XM_011516185.2:c.2194A>T | XP_011514487.1:p.Lys732Ter | |
| XM_011516186.3:c.2494A>T | XP_011514488.1:p.Lys832Ter | |
| XM_017012195.1:c.2344A>T | XP_016867684.1:p.Lys782Ter | |
| XM_017012196.1:c.2317A>T | XP_016867685.1:p.Lys773Ter | |
| NM_000238.4:c.2494A>T MANE Select | NP_000229.1:p.Lys832Ter | |
| NM_172057.3:c.1474A>T | NP_742054.1:p.Lys492Ter |