Linked Data
ClinVar Variation Id:
329277
ClinVar RCV Id:
RCV001094604
RCV001173786
RCV000611538
RCV000531573
RCV000712865
RCV002379211
RCV002504110
dbSNP Id:
rs76960467
ExAC:
19:40902978 G / A
gnomAD v2:
19-40902978-G-A
gnomAD v3:
19-40397071-G-A
gnomAD v4:
19-40397071-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40397071G>A , CM000681.2:g.40397071G>A | GRCh38 |
| NC_000019.9:g.40902978G>A , CM000681.1:g.40902978G>A | GRCh37 |
| NC_000019.8:g.45594818G>A | NCBI36 |
| NG_007979.1:g.21294C>T , LRG_265:g.21294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.1281C>T MANE Select | ENSP00000326018.6:p.Ile427= | |
| ENST00000673881.1:c.864C>T | ENSP00000501070.1:p.Ile288= | |
| ENST00000674005.2:c.1566C>T | ENSP00000501261.1:p.Ile522= | |
| ENST00000674773.1:c.864C>T | ENSP00000502579.1:p.Ile288= | |
| ENST00000675517.1:c.1156C>T | ||
| ENST00000676076.1:c.1142C>T | ||
| ENST00000676260.1:c.1243C>T | ||
| ENST00000676316.1:c.1168C>T | ||
| ENST00000291825.11:c.*1486C>T | ENSP00000291825.6:n.*1486C>T | |
| ENST00000324001.7:c.1281C>T | ENSP00000326018.6:p.Ile427= | |
| NM_020956.2:c.*1486C>T , LRG_265t1:c.*1486C>T | NP_066007.1:n.*1486C>T | |
| NM_181882.2:c.1281C>T , LRG_265t2:c.1281C>T | NP_870998.2:p.Ile427= | |
| XM_011527171.1:c.1281C>T | XP_011525473.1:p.Ile427= | |
| XM_011527171.2:c.1281C>T | XP_011525473.1:p.Ile427= | |
| XM_017027046.1:c.1179C>T | XP_016882535.1:p.Ile393= | |
| XM_017027047.1:c.1179C>T | XP_016882536.1:p.Ile393= | |
| NM_181882.3:c.1281C>T MANE Select | NP_870998.2:p.Ile427= |