Linked Data
dbSNP Id:
rs1000776958
gnomAD v2:
9-136130977-T-C
gnomAD v3:
9-133255590-T-C
gnomAD v4:
9-133255590-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255590T>C , CM000671.2:g.133255590T>C | GRCh38 |
| NC_000009.11:g.136130977T>C , CM000671.1:g.136130977T>C | GRCh37 |
| NC_000009.10:g.135120798T>C | NCBI36 |
| NG_006669.1:g.22078A>G | |
| NG_006669.2:g.24626A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1170A>G | ||
| ENST00000647353.1:n.54-4438A>G | ||
| ENST00000679909.1:c.28+19572A>G | ENSP00000506089.1:n.28+19572A>G | |
| ENST00000453660.3:n.1152A>G | ||
| ENST00000611156.4:c.*76A>G | ENSP00000483265.1:n.*76A>G | |
| NM_020469.2:c.*76A>G | NP_065202.2:n.*76A>G | |
| NM_020469.3:c.*76A>G | NP_065202.2:n.*76A>G |