Linked Data
ClinVar Variation Id:
286686
dbSNP Id:
rs201499268
ExAC:
16:49672268 G / A
gnomAD v2:
16-49672268-G-A
gnomAD v3:
16-49638357-G-A
gnomAD v4:
16-49638357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49638357G>A , CM000678.2:g.49638357G>A | GRCh38 |
| NC_000016.9:g.49672268G>A , CM000678.1:g.49672268G>A | GRCh37 |
| NC_000016.8:g.48229769G>A | NCBI36 |
| NG_032972.1:g.224563C>T | |
| NG_032972.2:g.224563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563137.7:c.819C>T MANE Select | ENSP00000455588.3:p.Cys273= | |
| ENST00000262383.6:c.795C>T | ENSP00000262383.2:p.Cys265= | |
| ENST00000535559.5:c.444C>T | ENSP00000442321.1:p.Cys148= | |
| ENST00000561648.5:c.795C>T | ENSP00000455426.1:p.Cys265= | |
| ENST00000562520.1:c.615C>T | ENSP00000457664.1:p.Cys205= | |
| ENST00000562871.5:c.615C>T | ENSP00000457928.1:p.Cys205= | |
| ENST00000563137.6:c.615C>T | ENSP00000455588.2:p.Cys205= | |
| ENST00000567169.5:c.444C>T | ENSP00000455061.1:p.Cys148= | |
| NM_001271620.1:c.615C>T | NP_001258549.1:p.Cys205= | |
| NM_015069.3:c.795C>T | NP_055884.2:p.Cys265= | |
| XM_005255856.3:c.615C>T | XP_005255913.1:p.Cys205= | |
| XM_005255857.3:c.444C>T | XP_005255914.1:p.Cys148= | |
| XM_006721171.2:c.840C>T | XP_006721234.1:p.Cys280= | |
| XM_011522962.1:c.888C>T | XP_011521264.1:p.Cys296= | |
| NM_001271620.2:c.615C>T | NP_001258549.1:p.Cys205= | |
| NM_001330533.1:c.444C>T | NP_001317462.1:p.Cys148= | |
| NM_015069.4:c.795C>T | NP_055884.2:p.Cys265= | |
| XM_005255856.4:c.615C>T | XP_005255913.1:p.Cys205= | |
| XM_006721171.4:c.840C>T | XP_006721234.1:p.Cys280= | |
| XM_017023076.2:c.819C>T | XP_016878565.1:p.Cys273= | |
| XM_017023077.1:c.615C>T | XP_016878566.1:p.Cys205= | |
| XM_017023078.1:c.615C>T | XP_016878567.1:p.Cys205= | |
| NM_001330533.2:c.444C>T | NP_001317462.1:p.Cys148= | |
| NM_001379286.1:c.819C>T MANE Select | NP_001366215.1:p.Cys273= | |
| NM_015069.5:c.795C>T | NP_055884.2:p.Cys265= |