Linked Data
ClinVar Variation Id:
2338470
ClinVar RCV Id:
RCV004176260
dbSNP Id:
rs776615242
ExAC:
19:14589232 T / C
gnomAD v2:
19-14589232-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14478420T>C , CM000681.2:g.14478420T>C | GRCh38 |
| NC_000019.9:g.14589232T>C , CM000681.1:g.14589232T>C | GRCh37 |
| NC_000019.8:g.14450232T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393033.9:c.998A>G MANE Select | ENSP00000376753.3:p.Tyr333Cys | |
| ENST00000345425.6:c.998A>G | ENSP00000340698.1:p.Tyr333Cys | |
| ENST00000393028.5:c.707A>G | ENSP00000376748.1:p.Tyr236Cys | |
| ENST00000393033.8:c.998A>G | ENSP00000376753.3:p.Tyr333Cys | |
| ENST00000585606.5:n.1415A>G | ||
| ENST00000586027.5:c.998A>G | ENSP00000466747.1:p.Tyr333Cys | |
| ENST00000589497.5:c.*337A>G | ENSP00000465003.1:n.*337A>G | |
| ENST00000589631.5:c.383A>G | ENSP00000466312.1:p.Tyr128Cys | |
| ENST00000591349.5:c.707A>G | ENSP00000467077.1:p.Tyr236Cys | |
| NM_005716.3:c.998A>G | NP_005707.1:p.Tyr333Cys | |
| NM_202468.2:c.998A>G | NP_974197.1:p.Tyr333Cys | |
| NM_202469.2:c.707A>G | NP_974198.1:p.Tyr236Cys | |
| NM_202470.2:c.998A>G | NP_974199.1:p.Tyr333Cys | |
| NM_202494.2:c.707A>G | NP_974223.1:p.Tyr236Cys | |
| XM_011527643.1:c.707A>G | XP_011525945.1:p.Tyr236Cys | |
| XM_017026147.1:c.998A>G | XP_016881636.1:p.Tyr333Cys | |
| XM_017026148.2:c.707A>G | XP_016881637.1:p.Tyr236Cys | |
| NM_005716.4:c.998A>G MANE Select | NP_005707.1:p.Tyr333Cys | |
| NM_202468.3:c.998A>G | NP_974197.1:p.Tyr333Cys | |
| NM_202469.3:c.707A>G | NP_974198.1:p.Tyr236Cys | |
| NM_202470.3:c.998A>G | NP_974199.1:p.Tyr333Cys | |
| NM_202494.3:c.707A>G | NP_974223.1:p.Tyr236Cys |