Linked Data
dbSNP Id:
rs1878145546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.44480894T>G , CM000675.2:g.44480894T>G | GRCh38 |
| NC_000013.10:g.45055030T>G , CM000675.1:g.45055030T>G | GRCh37 |
| NC_000013.9:g.43953030T>G | NCBI36 |
| NG_029852.1:g.100672A>C | |
| NG_029852.2:g.100672A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458659.3:c.2913-44799A>C MANE Select | ENSP00000397435.2:n.2913-44799A>C | |
| ENST00000458659.2:c.2913-44799A>C | ENSP00000397435.2:n.2913-44799A>C | |
| ENST00000501704.3:c.1664-46880A>C | ENSP00000437414.1:n.1664-46880A>C | |
| NM_001243799.1:c.1664-46880A>C | NP_001230728.1:n.1664-46880A>C | |
| NM_183422.3:c.2913-44799A>C | NP_904358.2:n.2913-44799A>C | |
| XM_024449427.1:c.2913-44799A>C | XP_024305195.1:n.2913-44799A>C | |
| NM_183422.4:c.2913-44799A>C MANE Select | NP_904358.2:n.2913-44799A>C |