Linked Data
dbSNP Id:
rs1331495654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203873935A>T , CM000664.2:g.203873935A>T | GRCh38 |
| NC_000002.11:g.204738658A>T , CM000664.1:g.204738658A>T | GRCh37 |
| NC_000002.10:g.204446903A>T | NCBI36 |
| NG_011502.1:g.11150A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696479.1:c.*1123A>T | ENSP00000512655.1:n.*1123A>T | |
| ENST00000648405.2:c.*1123A>T MANE Select | ENSP00000497102.1:n.*1123A>T | |
| ENST00000302823.7:c.*1123A>T | ENSP00000303939.3:n.*1123A>T | |
| NM_001037631.2:c.*1160A>T | NP_001032720.1:n.*1160A>T | |
| NM_005214.4:c.*1123A>T | NP_005205.2:n.*1123A>T | |
| XR_241294.1:n.1893A>T | ||
| NM_001037631.3:c.*1160A>T | NP_001032720.1:n.*1160A>T | |
| NM_005214.5:c.*1123A>T MANE Select | NP_005205.2:n.*1123A>T |