Linked Data
dbSNP Id:
rs7091565
gnomAD v2:
10-81913561-C-T
gnomAD v3:
10-80153805-C-T
gnomAD v4:
10-80153805-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80153805C>T , CM000672.2:g.80153805C>T | GRCh38 |
| NC_000010.10:g.81913561C>T , CM000672.1:g.81913561C>T | GRCh37 |
| NC_000010.9:g.81903541C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422982.8:c.*2048G>A MANE Select | ENSP00000404412.2:n.*2048G>A | |
| ENST00000372231.7:c.*2048G>A | ENSP00000361305.3:n.*2048G>A | |
| ENST00000438331.5:c.*2048G>A | ENSP00000398610.1:n.*2048G>A | |
| XM_005269741.3:c.*2048G>A | XP_005269798.1:n.*2048G>A | |
| XM_011539736.1:c.*2048G>A | XP_011538038.1:n.*2048G>A | |
| NM_145868.2:c.*2048G>A MANE Select | NP_665875.1:n.*2048G>A | |
| NM_001157.3:c.*2048G>A | NP_001148.1:n.*2048G>A | |
| NM_001278407.2:c.*2048G>A | NP_001265336.1:n.*2048G>A | |
| NM_001278409.2:c.*2048G>A | NP_001265338.1:n.*2048G>A | |
| NM_145869.2:c.*2048G>A | NP_665876.1:n.*2048G>A | |
| NM_001278408.2:c.*2048G>A | NP_001265337.1:n.*2048G>A |