Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128247031T>G , CM000669.2:g.128247031T>G | GRCh38 |
| NC_000007.13:g.127887084T>G , CM000669.1:g.127887084T>G | GRCh37 |
| NC_000007.12:g.127674320T>G | NCBI36 |
| NG_007450.1:g.10754T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308868.5:c.-28-4960T>G MANE Select | ENSP00000312652.4:n.-28-4960T>G | |
| ENST00000308868.4:c.-28-4960T>G | ENSP00000312652.4:n.-28-4960T>G | |
| NM_000230.2:c.-28-4960T>G | NP_000221.1:n.-28-4960T>G | |
| XM_005250340.3:c.-28-4960T>G | XP_005250397.1:n.-28-4960T>G | |
| XM_005250340.5:c.-28-4960T>G | XP_005250397.1:n.-28-4960T>G | |
| NM_000230.3:c.-28-4960T>G MANE Select | NP_000221.1:n.-28-4960T>G |