Linked Data
ClinVar Variation Id:
921315
ClinVar RCV Id:
RCV001843071
dbSNP Id:
rs1177213407
gnomAD v4:
7-150948524-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948524G>C , CM000669.2:g.150948524G>C | GRCh38 |
| NC_000007.13:g.150645612G>C , CM000669.1:g.150645612G>C | GRCh37 |
| NC_000007.12:g.150276545G>C | NCBI36 |
| NG_008916.1:g.34403C>G , LRG_288:g.34403C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3445C>G | ||
| ENST00000262186.10:c.2612C>G MANE Select | ENSP00000262186.5:p.Ser871Cys | |
| ENST00000330883.9:c.1592C>G | ENSP00000328531.4:p.Ser531Cys | |
| ENST00000262186.9:c.2612C>G | ENSP00000262186.5:p.Ser871Cys | |
| ENST00000330883.8:c.1592C>G | ENSP00000328531.4:p.Ser531Cys | |
| NM_000238.3:c.2612C>G , LRG_288t1:c.2612C>G | NP_000229.1:p.Ser871Cys | |
| NM_172057.2:c.1592C>G , LRG_288t3:c.1592C>G | NP_742054.1:p.Ser531Cys | |
| XM_011516185.1:c.2312C>G | XP_011514487.1:p.Ser771Cys | |
| XM_011516186.1:c.2612C>G | XP_011514488.1:p.Ser871Cys | |
| XM_011516185.2:c.2312C>G | XP_011514487.1:p.Ser771Cys | |
| XM_011516186.3:c.2612C>G | XP_011514488.1:p.Ser871Cys | |
| XM_017012195.1:c.2462C>G | XP_016867684.1:p.Ser821Cys | |
| XM_017012196.1:c.2435C>G | XP_016867685.1:p.Ser812Cys | |
| NM_000238.4:c.2612C>G MANE Select | NP_000229.1:p.Ser871Cys | |
| NM_172057.3:c.1592C>G | NP_742054.1:p.Ser531Cys |