Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954172A>G , CM000669.2:g.142954172A>G | GRCh38 |
| NC_000007.13:g.142651259A>G , CM000669.1:g.142651259A>G | GRCh37 |
| NC_000007.12:g.142361381A>G | NCBI36 |
| NG_007492.1:g.13245T>C | |
| NG_007492.2:g.13245T>C | |
| NG_007492.3:g.13245T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.924+12T>C MANE Select | ENSP00000347409.2:n.924+12T>C | |
| ENST00000355265.6:c.924+12T>C | ENSP00000347409.2:n.924+12T>C | |
| ENST00000479768.6:n.1042+12T>C | ||
| NM_000420.2:c.924+12T>C | NP_000411.1:n.924+12T>C | |
| XM_005249993.2:c.960+12T>C | XP_005250050.1:n.960+12T>C | |
| XM_005249994.3:c.-24+12T>C | XP_005250051.1:n.-24+12T>C | |
| NM_000420.3:c.924+12T>C MANE Select | NP_000411.1:n.924+12T>C |