Linked Data
gnomAD v4:
9-133257688-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257688G>T , CM000671.2:g.133257688G>T | GRCh38 |
| NC_000009.11:g.136133075G>T , CM000671.1:g.136133075G>T | GRCh37 |
| NC_000009.10:g.135122896G>T | NCBI36 |
| NG_006669.1:g.19979C>A | |
| NG_006669.2:g.22527C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.270-146C>A | ||
| ENST00000647353.1:n.54-6536C>A | ||
| ENST00000651471.1:n.329+354C>A | ||
| ENST00000679909.1:c.28+17474C>A | ENSP00000506089.1:n.28+17474C>A | |
| ENST00000453660.3:n.252-146C>A | ||
| ENST00000538324.2:c.240-146C>A | ENSP00000483018.1:n.240-146C>A | |
| ENST00000611156.4:c.240-146C>A | ENSP00000483265.1:n.240-146C>A | |
| NM_020469.2:c.240-146C>A | NP_065202.2:n.240-146C>A | |
| NM_020469.3:c.240-146C>A | NP_065202.2:n.240-146C>A |