Linked Data
dbSNP Id:
rs1455121247
gnomAD v2:
2-44114447-A-G
gnomAD v3:
2-43887308-A-G
gnomAD v4:
2-43887308-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887308A>G , CM000664.2:g.43887308A>G | GRCh38 |
| NC_000002.11:g.44114447A>G , CM000664.1:g.44114447A>G | GRCh37 |
| NC_000002.10:g.43967951A>G | NCBI36 |
| NG_008247.1:g.113698T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2244T>C | ||
| ENST00000684454.1:n.9341T>C | ||
| ENST00000260665.12:c.*1292T>C MANE Select | ENSP00000260665.7:n.*1292T>C | |
| ENST00000260665.11:c.*1292T>C | ENSP00000260665.7:n.*1292T>C | |
| NM_133259.3:c.*1292T>C | NP_573566.2:n.*1292T>C | |
| XR_002958896.1:n.5659T>C | ||
| NM_133259.4:c.*1292T>C MANE Select | NP_573566.2:n.*1292T>C |