dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75118069T>C , CM000664.2:g.75118069T>C | GRCh38 |
| NC_000002.11:g.75345195T>C , CM000664.1:g.75345195T>C | GRCh37 |
| NC_000002.10:g.75198703T>C | NCBI36 |
| NG_029522.1:g.86451A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305249.10:c.584+2505A>G MANE Select | ENSP00000303522.4:n.584+2505A>G | |
| ENST00000305249.9:c.584+2505A>G | ENSP00000303522.4:n.584+2505A>G | |
| ENST00000409848.3:c.584+2505A>G | ENSP00000386448.3:n.584+2505A>G | |
| NM_001058.3:c.584+2505A>G | NP_001049.1:n.584+2505A>G | |
| NM_015727.2:c.584+2505A>G | NP_056542.1:n.584+2505A>G | |
| NM_001058.4:c.584+2505A>G MANE Select | NP_001049.1:n.584+2505A>G | |
| NM_015727.3:c.584+2505A>G | NP_056542.1:n.584+2505A>G |