Linked Data
MyVariant Identifiers:
chr9:g.136131730G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256343G>A , CM000671.2:g.133256343G>A | GRCh38 |
| NC_000009.11:g.136131730G>A , CM000671.1:g.136131730G>A | GRCh37 |
| NC_000009.10:g.135121551G>A | NCBI36 |
| NG_006669.1:g.21325C>T | |
| NG_006669.2:g.23873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.417C>T | ||
| ENST00000647353.1:n.54-5191C>T | ||
| ENST00000651471.1:n.343C>T | ||
| ENST00000679909.1:c.28+18819C>T | ENSP00000506089.1:n.28+18819C>T | |
| ENST00000453660.3:n.399C>T | ||
| ENST00000538324.2:c.385C>T | ENSP00000483018.1:p.Leu129= | |
| ENST00000611156.4:c.385C>T | ENSP00000483265.1:p.Leu129= | |
| NM_020469.2:c.388C>T | NP_065202.2:p.Leu130= | |
| NM_020469.3:c.388C>T | NP_065202.2:p.Leu130= |