Linked Data
ClinVar Variation Id:
510793
dbSNP Id:
rs1194012098
gnomAD v2:
19-40902579-T-G
gnomAD v4:
19-40396672-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40396672T>G , CM000681.2:g.40396672T>G | GRCh38 |
| NC_000019.9:g.40902579T>G , CM000681.1:g.40902579T>G | GRCh37 |
| NC_000019.8:g.45594419T>G | NCBI36 |
| NG_007979.1:g.21693A>C , LRG_265:g.21693A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.1680A>C MANE Select | ENSP00000326018.6:p.Ser560= | |
| ENST00000673881.1:c.1263A>C | ENSP00000501070.1:p.Ser421= | |
| ENST00000674005.2:c.1965A>C | ENSP00000501261.1:p.Ser655= | |
| ENST00000674773.1:c.1263A>C | ENSP00000502579.1:p.Ser421= | |
| ENST00000675517.1:c.1555A>C | ||
| ENST00000676076.1:c.1541A>C | ||
| ENST00000676260.1:c.1642A>C | ||
| ENST00000676316.1:c.1567A>C | ||
| ENST00000291825.11:c.*1885A>C | ENSP00000291825.6:n.*1885A>C | |
| ENST00000324001.7:c.1680A>C | ENSP00000326018.6:p.Ser560= | |
| NM_020956.2:c.*1885A>C , LRG_265t1:c.*1885A>C | NP_066007.1:n.*1885A>C | |
| NM_181882.2:c.1680A>C , LRG_265t2:c.1680A>C | NP_870998.2:p.Ser560= | |
| XM_011527171.1:c.1680A>C | XP_011525473.1:p.Ser560= | |
| XM_011527171.2:c.1680A>C | XP_011525473.1:p.Ser560= | |
| XM_017027046.1:c.1578A>C | XP_016882535.1:p.Ser526= | |
| XM_017027047.1:c.1578A>C | XP_016882536.1:p.Ser526= | |
| NM_181882.3:c.1680A>C MANE Select | NP_870998.2:p.Ser560= |