Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128250009T>C , CM000669.2:g.128250009T>C | GRCh38 |
| NC_000007.13:g.127890062T>C , CM000669.1:g.127890062T>C | GRCh37 |
| NC_000007.12:g.127677298T>C | NCBI36 |
| NG_007450.1:g.13732T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000230.3:c.-28-1982T>C MANE Select | NP_000221.1:n.-28-1982T>C |
| ENST00000308868.5:c.-28-1982T>C MANE Select | ENSP00000312652.4:n.-28-1982T>C |
| NM_000230.2:c.-28-1982T>C | NP_000221.1:n.-28-1982T>C |
| ENST00000308868.4:c.-28-1982T>C | ENSP00000312652.4:n.-28-1982T>C |
| XM_005250340.3:c.-28-1982T>C | XP_005250397.1:n.-28-1982T>C |
| XM_005250340.5:c.-28-1982T>C | XP_005250397.1:n.-28-1982T>C |