Linked Data
ClinVar Variation Id:
3057534
ClinVar RCV Id:
RCV003981422
dbSNP Id:
rs368938944
ExAC:
17:1387550 G / A
gnomAD v2:
17-1387550-G-A
gnomAD v3:
17-1484256-G-A
gnomAD v4:
17-1484256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1484256G>A , CM000679.2:g.1484256G>A | GRCh38 |
| NC_000017.10:g.1387550G>A , CM000679.1:g.1387550G>A | GRCh37 |
| NC_000017.9:g.1334300G>A | NCBI36 |
| NG_047063.1:g.13452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361007.7:c.18C>T | ENSP00000354283.2:p.Thr6= | |
| ENST00000570984.7:c.18C>T | ENSP00000459271.3:p.Thr6= | |
| ENST00000646049.1:c.18C>T | ENSP00000493973.1:p.Thr6= | |
| ENST00000648446.1:c.66C>T | ENSP00000496799.1:p.Thr22= | |
| ENST00000648651.1:c.123C>T MANE Select | ENSP00000496954.1:p.Thr41= | |
| ENST00000359786.9:c.123C>T | ENSP00000352834.5:p.Thr41= | |
| ENST00000361007.6:c.18C>T | ENSP00000354283.2:p.Thr6= | |
| ENST00000438665.6:c.66C>T | ENSP00000412197.2:p.Thr22= | |
| ENST00000545534.6:c.51C>T | ENSP00000437685.2:p.Thr17= | |
| ENST00000570490.5:c.57C>T | ENSP00000461682.1:p.Thr19= | |
| ENST00000570984.6:c.18C>T | ENSP00000459271.2:p.Thr6= | |
| ENST00000571715.1:c.18C>T | ENSP00000458610.1:p.Thr6= | |
| ENST00000573853.5:c.18C>T | ENSP00000460831.1:p.Thr6= | |
| ENST00000574790.5:c.18C>T | ENSP00000461175.1:p.Thr6= | |
| ENST00000575158.5:c.18C>T | ENSP00000459174.1:p.Thr6= | |
| ENST00000575335.5:c.18C>T | ENSP00000460415.1:p.Thr6= | |
| NM_001080779.1:c.123C>T | NP_001074248.1:p.Thr41= | |
| NM_001080950.1:c.66C>T | NP_001074419.1:p.Thr22= | |
| NM_033375.4:c.18C>T | NP_203693.3:p.Thr6= | |
| NM_001363855.1:c.51C>T | NP_001350784.1:p.Thr17= | |
| XM_024450768.1:c.18C>T | XP_024306536.1:p.Thr6= | |
| XM_024450769.1:c.18C>T | XP_024306537.1:p.Thr6= | |
| NM_001080779.2:c.123C>T MANE Select | NP_001074248.1:p.Thr41= | |
| NM_001080950.2:c.66C>T | NP_001074419.1:p.Thr22= | |
| NM_033375.5:c.18C>T | NP_203693.3:p.Thr6= |