Linked Data
dbSNP Id:
rs12039519
gnomAD v2:
1-161953400-G-A
gnomAD v3:
1-161983610-G-A
gnomAD v4:
1-161983610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161983610G>A , CM000663.2:g.161983610G>A | GRCh38 |
| NC_000001.10:g.161953400G>A , CM000663.1:g.161953400G>A | GRCh37 |
| NC_000001.9:g.160220024G>A | NCBI36 |
| NG_052853.1:g.45856C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294794.8:c.*65C>T MANE Select | ENSP00000294794.3:n.*65C>T | |
| ENST00000294794.7:c.*65C>T | ENSP00000294794.3:n.*65C>T | |
| ENST00000367938.1:c.*65C>T | ENSP00000356915.1:n.*65C>T | |
| ENST00000367940.2:c.*65C>T | ENSP00000356917.2:n.*65C>T | |
| ENST00000525589.1:c.332C>T | ENSP00000435212.1:n.332C>T | |
| ENST00000533556.1:c.338C>T | ENSP00000436707.1:n.338C>T | |
| NM_001297713.1:c.*65C>T | NP_001284642.1:n.*65C>T | |
| NM_015441.2:c.*65C>T | NP_056256.1:n.*65C>T | |
| XM_005245075.2:c.*65C>T | XP_005245132.1:n.*65C>T | |
| XM_011509398.1:c.*65C>T | XP_011507700.1:n.*65C>T | |
| NM_001347700.1:c.*65C>T | NP_001334629.1:n.*65C>T | |
| XM_011509398.2:c.*65C>T | XP_011507700.1:n.*65C>T | |
| NM_001297713.2:c.*65C>T | NP_001284642.1:n.*65C>T | |
| NM_001347700.2:c.*65C>T | NP_001334629.1:n.*65C>T | |
| NM_015441.3:c.*65C>T MANE Select | NP_056256.1:n.*65C>T |