Linked Data
ClinVar Variation Id:
45753
dbSNP Id:
rs854777
ExAC:
17:18046898 T / C
gnomAD v2:
17-18046898-T-C
gnomAD v3:
17-18143584-T-C
gnomAD v4:
17-18143584-T-C
ERepo:
CA136998/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18143584T>C , CM000679.2:g.18143584T>C | GRCh38 |
| NC_000017.10:g.18046898T>C , CM000679.1:g.18046898T>C | GRCh37 |
| NC_000017.9:g.17987623T>C | NCBI36 |
| NG_011634.1:g.39879T>C | |
| NG_011634.2:g.39879T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.5929T>C MANE Select | ENSP00000495481.1:p.Cys1977Arg | |
| ENST00000205890.9:c.5929T>C | ENSP00000205890.5:p.Cys1977Arg | |
| ENST00000615845.4:c.5929T>C | ENSP00000481642.1:p.Cys1977Arg | |
| NM_016239.3:c.5929T>C | NP_057323.3:p.Cys1977Arg | |
| XM_011523917.1:c.5905-131T>C | XP_011522219.1:n.5905-131T>C | |
| XM_011523918.1:c.5905-131T>C | XP_011522220.1:n.5905-131T>C | |
| XM_011523919.1:c.5905-131T>C | XP_011522221.1:n.5905-131T>C | |
| XM_011523920.1:c.*36T>C | XP_011522222.1:n.*36T>C | |
| XM_011523921.1:c.5923T>C | XP_011522223.1:p.Cys1975Arg | |
| XR_934037.1:n.6564-131T>C | ||
| XR_934038.1:n.6564-131T>C | ||
| XR_934039.1:n.6821T>C | ||
| XM_011523918.2:c.5905-131T>C | XP_011522220.1:n.5905-131T>C | |
| XM_017024714.2:c.5905-131T>C | XP_016880203.1:n.5905-131T>C | |
| XM_017024715.2:c.5932T>C | XP_016880204.1:p.Cys1978Arg | |
| XM_024450780.1:c.5905-131T>C | XP_024306548.1:n.5905-131T>C | |
| XM_024450781.1:c.5905-131T>C | XP_024306549.1:n.5905-131T>C | |
| XM_024450782.1:c.*36T>C | XP_024306550.1:n.*36T>C | |
| XR_934039.2:n.6860T>C | ||
| NM_016239.4:c.5929T>C MANE Select | NP_057323.3:p.Cys1977Arg |