Linked Data
dbSNP Id:
rs200757344
ExAC:
17:61566332 C / G
gnomAD v2:
17-61566332-C-G
gnomAD v3:
17-63488971-C-G
gnomAD v4:
17-63488971-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488971C>G , CM000679.2:g.63488971C>G | GRCh38 |
| NC_000017.10:g.61566332C>G , CM000679.1:g.61566332C>G | GRCh37 |
| NC_000017.9:g.58920064C>G | NCBI36 |
| NG_011648.1:g.16899C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2480C>G MANE Select | ENSP00000290866.4:p.Ser827Cys | |
| ENST00000290863.10:c.758C>G | ENSP00000290863.6:p.Ser253Cys | |
| ENST00000290866.9:c.2480C>G | ENSP00000290866.4:p.Ser827Cys | |
| ENST00000413513.7:c.758C>G | ENSP00000392247.3:p.Ser253Cys | |
| ENST00000428043.5:c.2480C>G | ENSP00000397593.2:p.Ser827Cys | |
| ENST00000577647.2:c.758C>G | ENSP00000464149.1:p.Ser253Cys | |
| ENST00000578839.5:c.*519+180C>G | ENSP00000462110.2:n.*519+180C>G | |
| ENST00000579204.1:c.739C>G | ENSP00000464629.1:n.739C>G | |
| ENST00000579314.5:c.*209C>G | ENSP00000462599.1:n.*209C>G | |
| ENST00000582005.5:c.*400C>G | ENSP00000462002.1:n.*400C>G | |
| ENST00000582761.1:c.248C>G | ENSP00000462909.1:p.Ser83Cys | |
| ENST00000584865.5:n.426C>G | ||
| NM_000789.3:c.2480C>G | NP_000780.1:p.Ser827Cys | |
| NM_001178057.1:c.758C>G | NP_001171528.1:p.Ser253Cys | |
| NM_152830.2:c.758C>G | NP_690043.1:p.Ser253Cys | |
| XM_005257110.1:c.1931C>G | XP_005257167.1:p.Ser644Cys | |
| XM_006721737.2:c.818C>G | XP_006721800.2:p.Ser273Cys | |
| XM_006721737.3:c.818C>G | XP_006721800.2:p.Ser273Cys | |
| NM_000789.4:c.2480C>G MANE Select | NP_000780.1:p.Ser827Cys | |
| NM_001178057.2:c.758C>G | NP_001171528.1:p.Ser253Cys | |
| NM_152830.3:c.758C>G | NP_690043.1:p.Ser253Cys | |
| NM_001382700.1:c.1913C>G | NP_001369629.1:p.Ser638Cys | |
| NM_001382701.1:c.1628C>G | NP_001369630.1:p.Ser543Cys | |
| NM_001382702.1:c.379+180C>G | NP_001369631.1:n.379+180C>G | |
| NR_168483.1:n.858C>G |