Linked Data
ClinVar Variation Id:
287865
dbSNP Id:
rs139001173
ExAC:
1:22178111 G / A
gnomAD v2:
1-22178111-G-A
gnomAD v3:
1-21851618-G-A
gnomAD v4:
1-21851618-G-A
COSMIC:
COSM1339050
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21851618G>A , CM000663.2:g.21851618G>A | GRCh38 |
| NC_000001.10:g.22178111G>A , CM000663.1:g.22178111G>A | GRCh37 |
| NC_000001.9:g.22050698G>A | NCBI36 |
| NG_016740.1:g.90640C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.7086C>T MANE Select | ENSP00000363827.3:p.Cys2362= | |
| ENST00000374695.7:c.7086C>T | ENSP00000363827.3:p.Cys2362= | |
| ENST00000493940.2:n.305-28C>T | ||
| NM_001291860.1:c.7089C>T | NP_001278789.1:p.Cys2363= | |
| NM_005529.6:c.7086C>T | NP_005520.4:p.Cys2362= | |
| XM_006710594.2:c.7632C>T | XP_006710657.1:p.Cys2544= | |
| XM_006710595.2:c.7584C>T | XP_006710658.1:p.Cys2528= | |
| XM_006710596.2:c.7563C>T | XP_006710659.1:p.Cys2521= | |
| XM_006710597.2:c.7086C>T | XP_006710660.1:p.Cys2362= | |
| XM_011541317.1:c.7635C>T | XP_011539619.1:p.Cys2545= | |
| XM_011541318.1:c.7635C>T | XP_011539620.1:p.Cys2545= | |
| XM_011541319.1:c.7635C>T | XP_011539621.1:p.Cys2545= | |
| XM_011541320.1:c.7356C>T | XP_011539622.1:p.Cys2452= | |
| XM_011541321.1:c.7140C>T | XP_011539623.1:p.Cys2380= | |
| XM_011541322.1:c.7635C>T | XP_011539624.1:p.Cys2545= | |
| XM_011541318.2:c.7635C>T | XP_011539620.1:p.Cys2545= | |
| XM_017001120.1:c.7281C>T | XP_016856609.1:p.Cys2427= | |
| XM_017001121.1:c.7230C>T | XP_016856610.1:p.Cys2410= | |
| XM_017001122.1:c.7227C>T | XP_016856611.1:p.Cys2409= | |
| NM_005529.7:c.7086C>T MANE Select | NP_005520.4:p.Cys2362= | |
| NM_001291860.2:c.7089C>T | NP_001278789.1:p.Cys2363= |