dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.123736506G>T , CM000669.2:g.123736506G>T | GRCh38 |
| NC_000007.13:g.123376560G>T , CM000669.1:g.123376560G>T | GRCh37 |
| NC_000007.12:g.123163796G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223023.5:c.117+12112C>A MANE Select | ENSP00000223023.4:n.117+12112C>A | |
| ENST00000223023.4:c.117+12112C>A | ENSP00000223023.4:n.117+12112C>A | |
| NM_003941.3:c.117+12112C>A | NP_003932.3:n.117+12112C>A | |
| NM_003941.4:c.117+12112C>A MANE Select | NP_003932.3:n.117+12112C>A |