Linked Data
dbSNP Id:
rs1288664550
gnomAD v2:
9-136130790-T-C
gnomAD v3:
9-133255403-T-C
gnomAD v4:
9-133255403-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255403T>C , CM000671.2:g.133255403T>C | GRCh38 |
| NC_000009.11:g.136130790T>C , CM000671.1:g.136130790T>C | GRCh37 |
| NC_000009.10:g.135120611T>C | NCBI36 |
| NG_006669.1:g.22265A>G | |
| NG_006669.2:g.24813A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1357A>G | ||
| ENST00000647353.1:n.54-4251A>G | ||
| ENST00000679909.1:c.28+19759A>G | ENSP00000506089.1:n.28+19759A>G | |
| ENST00000453660.3:n.1339A>G | ||
| ENST00000611156.4:c.*263A>G | ENSP00000483265.1:n.*263A>G | |
| NM_020469.2:c.*263A>G | NP_065202.2:n.*263A>G | |
| NM_020469.3:c.*263A>G | NP_065202.2:n.*263A>G |