Linked Data
dbSNP Id:
rs563716564
ExAC:
9:136131707 C / T
gnomAD v2:
9-136131707-C-T
gnomAD v4:
9-133256320-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256320C>T , CM000671.2:g.133256320C>T | GRCh38 |
| NC_000009.11:g.136131707C>T , CM000671.1:g.136131707C>T | GRCh37 |
| NC_000009.10:g.135121528C>T | NCBI36 |
| NG_006669.1:g.21348G>A | |
| NG_006669.2:g.23896G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.440G>A | ||
| ENST00000647353.1:n.54-5168G>A | ||
| ENST00000651471.1:n.366G>A | ||
| ENST00000679909.1:c.28+18842G>A | ENSP00000506089.1:n.28+18842G>A | |
| ENST00000453660.3:n.422G>A | ||
| ENST00000538324.2:c.408G>A | ENSP00000483018.1:p.Ala136= | |
| ENST00000611156.4:c.408G>A | ENSP00000483265.1:p.Ala136= | |
| NM_020469.2:c.411G>A | NP_065202.2:p.Ala137= | |
| NM_020469.3:c.411G>A | NP_065202.2:p.Ala137= |