Linked Data
gnomAD v4:
5-135028590-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028590G>C , CM000667.2:g.135028590G>C | GRCh38 |
| NC_000005.9:g.134364280G>C , CM000667.1:g.134364280G>C | GRCh37 |
| NC_000005.8:g.134392179G>C | NCBI36 |
| NG_012114.1:g.10685C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*189C>G MANE Select | ENSP00000265340.6:n.*189C>G | |
| ENST00000265340.11:c.*189C>G | ENSP00000265340.6:n.*189C>G | |
| ENST00000506438.5:c.*189C>G | ENSP00000427542.1:n.*189C>G | |
| NM_002653.4:c.*189C>G | NP_002644.4:n.*189C>G | |
| NM_002653.5:c.*189C>G MANE Select | NP_002644.4:n.*189C>G |