Linked Data
gnomAD v4:
9-133257344-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257344A>C , CM000671.2:g.133257344A>C | GRCh38 |
| NC_000009.11:g.136132731A>C , CM000671.1:g.136132731A>C | GRCh37 |
| NC_000009.10:g.135122552A>C | NCBI36 |
| NG_006669.1:g.20324T>G | |
| NG_006669.2:g.22872T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.403+65T>G | ||
| ENST00000647353.1:n.54-6192T>G | ||
| ENST00000651471.1:n.329+698T>G | ||
| ENST00000679909.1:c.28+17818T>G | ENSP00000506089.1:n.28+17818T>G | |
| ENST00000453660.3:n.385+65T>G | ||
| ENST00000538324.2:c.371+65T>G | ENSP00000483018.1:n.371+65T>G | |
| ENST00000611156.4:c.371+65T>G | ENSP00000483265.1:n.371+65T>G | |
| NM_020469.2:c.374+65T>G | NP_065202.2:n.374+65T>G | |
| NM_020469.3:c.374+65T>G | NP_065202.2:n.374+65T>G |