Linked Data
dbSNP Id:
rs1272708823
gnomAD v2:
1-196712736-G-T
gnomAD v4:
1-196743606-G-T
COSMIC:
COSM1320608
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743606G>T , CM000663.2:g.196743606G>T | GRCh38 |
| NC_000001.10:g.196712736G>T , CM000663.1:g.196712736G>T | GRCh37 |
| NC_000001.9:g.194979359G>T | NCBI36 |
| NG_007259.1:g.96596G>T , LRG_47:g.96596G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4316G>T | ||
| ENST00000695970.1:c.3114G>T | ENSP00000512297.1:p.Trp1038Cys | |
| ENST00000695971.1:c.3267G>T | ENSP00000512298.1:p.Trp1089Cys | |
| ENST00000695972.1:c.*365G>T | ENSP00000512299.1:n.*365G>T | |
| ENST00000695973.1:c.*1652G>T | ENSP00000512300.1:n.*1652G>T | |
| ENST00000695974.1:c.3111G>T | ENSP00000512301.1:p.Trp1037Cys | |
| ENST00000695975.1:c.*1415G>T | ENSP00000512302.1:n.*1415G>T | |
| ENST00000695976.1:c.3099G>T | ENSP00000512303.1:p.Trp1033Cys | |
| ENST00000695981.1:c.3288G>T | ENSP00000512306.1:p.Trp1096Cys | |
| ENST00000695984.1:c.1296G>T | ENSP00000512309.1:p.Trp432Cys | |
| ENST00000695986.1:c.*2939G>T | ENSP00000512311.1:n.*2939G>T | |
| ENST00000696026.1:c.*1570G>T | ENSP00000512335.1:n.*1570G>T | |
| ENST00000696027.1:c.3282G>T | ENSP00000512336.1:p.Trp1094Cys | |
| ENST00000696028.1:c.3216G>T | ENSP00000512337.1:p.Trp1072Cys | |
| ENST00000696029.1:c.3282G>T | ENSP00000512338.1:p.Trp1094Cys | |
| ENST00000696031.1:c.*2806G>T | ENSP00000512340.1:n.*2806G>T | |
| ENST00000696032.1:c.3288G>T | ENSP00000512341.1:p.Trp1096Cys | |
| ENST00000696033.1:c.1160-36191G>T | ENSP00000512342.1:n.1160-36191G>T | |
| ENST00000367429.9:c.3288G>T MANE Select | ENSP00000356399.4:p.Trp1096Cys | |
| ENST00000367429.8:c.3288G>T | ENSP00000356399.4:p.Trp1096Cys | |
| ENST00000466229.5:n.6386G>T | ||
| NM_000186.3:c.3288G>T , LRG_47t1:c.3288G>T | NP_000177.2:p.Trp1096Cys | |
| XR_001737134.2:n.3474G>T | ||
| NM_000186.4:c.3288G>T MANE Select | NP_000177.2:p.Trp1096Cys |