Linked Data
dbSNP Id:
rs2104700024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831699A>C , CM000664.2:g.70831699A>C | GRCh38 |
| NC_000002.11:g.71058830A>C , CM000664.1:g.71058830A>C | GRCh37 |
| NC_000002.10:g.70912338A>C | NCBI36 |
| NG_033914.1:g.9125T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.836+2T>G MANE Select | ENSP00000386378.3:n.836+2T>G | |
| ENST00000410009.4:c.836+2T>G | ENSP00000386378.3:n.836+2T>G | |
| NM_015717.4:c.836+2T>G | NP_056532.4:n.836+2T>G | |
| XM_011532874.1:c.836+2T>G | XP_011531176.1:n.836+2T>G | |
| XM_011532875.1:c.836+2T>G | XP_011531177.1:n.836+2T>G | |
| XM_011532876.1:c.836+2T>G | XP_011531178.1:n.836+2T>G | |
| XM_011532875.2:c.836+2T>G | XP_011531177.1:n.836+2T>G | |
| XM_011532876.2:c.836+2T>G | XP_011531178.1:n.836+2T>G | |
| NM_015717.5:c.836+2T>G MANE Select | NP_056532.4:n.836+2T>G |