Linked Data
dbSNP Id:
rs1044165
gnomAD v2:
X-65241726-G-A
gnomAD v3:
X-66021884-G-A
gnomAD v4:
X-66021884-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.66021884G>A , CM000685.2:g.66021884G>A | GRCh38 |
| NC_000023.10:g.65241726G>A , CM000685.1:g.65241726G>A | GRCh37 |
| NC_000023.9:g.65158451G>A | NCBI36 |
| NG_021306.1:g.23242C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374737.9:c.*379C>T MANE Select | ENSP00000363869.4:n.*379C>T | |
| ENST00000651578.1:c.*829C>T | ENSP00000498502.1:n.*829C>T | |
| ENST00000374737.8:c.*379C>T | ENSP00000363869.4:n.*379C>T | |
| ENST00000412866.2:c.*379C>T | ENSP00000394143.2:n.*379C>T | |
| ENST00000427538.5:c.1024C>T | ||
| ENST00000455586.6:c.*953C>T | ENSP00000411581.2:n.*953C>T | |
| NM_001100431.1:c.*379C>T | NP_001093901.1:n.*379C>T | |
| NM_001184830.1:c.*953C>T | NP_001171759.1:n.*953C>T | |
| NM_001184831.1:c.*953C>T | NP_001171760.1:n.*953C>T | |
| NM_001257403.1:c.*201C>T | NP_001244332.1:n.*201C>T | |
| NM_007268.2:c.*379C>T | NP_009199.1:n.*379C>T | |
| XM_017029251.2:c.*201C>T | XP_016884740.1:n.*201C>T | |
| NM_007268.3:c.*379C>T MANE Select | NP_009199.1:n.*379C>T | |
| NM_001100431.2:c.*379C>T | NP_001093901.1:n.*379C>T | |
| NM_001184831.2:c.*953C>T | NP_001171760.1:n.*953C>T | |
| NM_001257403.2:c.*201C>T | NP_001244332.1:n.*201C>T | |
| NM_001184830.2:c.*953C>T | NP_001171759.1:n.*953C>T |