Linked Data
ClinVar Variation Id:
67442
ClinVar RCV Id:
RCV000058168
dbSNP Id:
rs121912514
gnomAD v2:
7-150644817-G-T
gnomAD v4:
7-150947729-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947729G>T , CM000669.2:g.150947729G>T | GRCh38 |
| NC_000007.13:g.150644817G>T , CM000669.1:g.150644817G>T | GRCh37 |
| NC_000007.12:g.150275750G>T | NCBI36 |
| NG_008916.1:g.35198C>A , LRG_288:g.35198C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3675C>A | ||
| ENST00000262186.10:c.2842C>A MANE Select | ENSP00000262186.5:p.Arg948Ser | |
| ENST00000330883.9:c.1822C>A | ENSP00000328531.4:p.Arg608Ser | |
| ENST00000262186.9:c.2842C>A | ENSP00000262186.5:p.Arg948Ser | |
| ENST00000330883.8:c.1822C>A | ENSP00000328531.4:p.Arg608Ser | |
| NM_000238.3:c.2842C>A , LRG_288t1:c.2842C>A | NP_000229.1:p.Arg948Ser | |
| NM_172057.2:c.1822C>A , LRG_288t3:c.1822C>A | NP_742054.1:p.Arg608Ser | |
| XM_011516185.1:c.2542C>A | XP_011514487.1:p.Arg848Ser | |
| XM_011516186.1:c.2693-38C>A | XP_011514488.1:n.2693-38C>A | |
| XM_011516185.2:c.2542C>A | XP_011514487.1:p.Arg848Ser | |
| XM_011516186.3:c.2693-38C>A | XP_011514488.1:n.2693-38C>A | |
| XM_017012195.1:c.2692C>A | XP_016867684.1:p.Arg898Ser | |
| XM_017012196.1:c.2665C>A | XP_016867685.1:p.Arg889Ser | |
| NM_000238.4:c.2842C>A MANE Select | NP_000229.1:p.Arg948Ser | |
| NM_172057.3:c.1822C>A | NP_742054.1:p.Arg608Ser |