Linked Data
ClinVar Variation Id:
325910
dbSNP Id:
rs113491328
ExAC:
17:79893246 G / A
gnomAD v2:
17-79893246-G-A
gnomAD v3:
17-81935370-G-A
gnomAD v4:
17-81935370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81935370G>A , CM000679.2:g.81935370G>A | GRCh38 |
| NC_000017.10:g.79893246G>A , CM000679.1:g.79893246G>A | GRCh37 |
| NC_000017.9:g.77486537G>A | NCBI36 |
| NG_023032.1:g.6723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329875.13:c.285C>T MANE Select | ENSP00000328858.8:p.Cys95= | |
| ENST00000329875.12:c.285C>T | ENSP00000328858.8:p.Cys95= | |
| ENST00000337943.9:c.285C>T | ENSP00000336579.5:p.Cys95= | |
| ENST00000402252.6:c.366C>T | ENSP00000384949.2:p.Cys122= | |
| ENST00000403172.8:c.285C>T | ENSP00000385483.4:p.Cys95= | |
| ENST00000405481.8:c.285C>T | ENSP00000386002.4:p.Cys95= | |
| ENST00000577624.5:c.139-226C>T | ENSP00000464098.1:n.139-226C>T | |
| ENST00000577756.5:c.285C>T | ENSP00000463352.1:p.Cys95= | |
| ENST00000579366.5:c.195C>T | ENSP00000462398.1:p.Cys65= | |
| ENST00000579698.5:c.285C>T | ENSP00000463601.1:p.Cys95= | |
| ENST00000581271.5:c.285C>T | ENSP00000464440.1:p.Cys95= | |
| ENST00000582198.5:c.195C>T | ENSP00000463226.1:p.Cys65= | |
| ENST00000584848.5:c.246C>T | ENSP00000463342.1:p.Cys82= | |
| ENST00000585215.5:c.285C>T | ENSP00000463343.1:p.Cys95= | |
| ENST00000619204.4:c.285C>T | ENSP00000479793.1:p.Cys95= | |
| ENST00000629768.2:c.285C>T | ENSP00000485679.1:p.Cys95= | |
| NM_001282279.1:c.285C>T | NP_001269208.1:p.Cys95= | |
| NM_001282280.1:c.285C>T | NP_001269209.1:p.Cys95= | |
| NM_001282281.1:c.366C>T | NP_001269210.1:p.Cys122= | |
| NM_006907.3:c.285C>T | NP_008838.2:p.Cys95= | |
| NM_153824.2:c.285C>T | NP_722546.1:p.Cys95= | |
| XM_005256381.1:c.285C>T | XP_005256438.1:p.Cys95= | |
| XM_011523583.1:c.285C>T | XP_011521885.1:p.Cys95= | |
| XM_011523584.1:c.285C>T | XP_011521886.1:p.Cys95= | |
| XM_011523585.1:c.366C>T | XP_011521887.1:p.Cys122= | |
| NM_001330523.1:c.285C>T | NP_001317452.1:p.Cys95= | |
| XM_005256381.2:c.285C>T | XP_005256438.1:p.Cys95= | |
| XM_011523583.2:c.285C>T | XP_011521885.1:p.Cys95= | |
| XM_011523584.3:c.285C>T | XP_011521886.1:p.Cys95= | |
| XM_011523585.2:c.366C>T | XP_011521887.1:p.Cys122= | |
| XM_024450849.1:c.285C>T | XP_024306617.1:p.Cys95= | |
| NM_001282279.2:c.285C>T | NP_001269208.1:p.Cys95= | |
| NM_001282281.2:c.366C>T | NP_001269210.1:p.Cys122= | |
| NM_006907.4:c.285C>T MANE Select | NP_008838.2:p.Cys95= | |
| NM_153824.3:c.285C>T | NP_722546.1:p.Cys95= | |
| NM_001282280.2:c.285C>T | NP_001269209.1:p.Cys95= | |
| NM_001330523.2:c.285C>T | NP_001317452.1:p.Cys95= |