Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169348269T>G , CM000664.2:g.169348269T>G | GRCh38 |
| NC_000002.11:g.170204779T>G , CM000664.1:g.170204779T>G | GRCh37 |
| NC_000002.10:g.169913025T>G | NCBI36 |
| NG_012634.1:g.19344A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.79+14052A>C MANE Select | ENSP00000496870.1:n.79+14052A>C | |
| ENST00000263816.7:c.79+14052A>C | ENSP00000263816.3:n.79+14052A>C | |
| ENST00000443831.1:c.79+14052A>C | ENSP00000409813.1:n.79+14052A>C | |
| NM_004525.2:c.79+14052A>C | NP_004516.2:n.79+14052A>C | |
| XM_011511183.1:c.79+14052A>C | XP_011509485.1:n.79+14052A>C | |
| XM_011511185.1:c.79+14052A>C | XP_011509487.1:n.79+14052A>C | |
| NM_004525.3:c.79+14052A>C MANE Select | NP_004516.2:n.79+14052A>C | |
| XM_011511183.3:c.79+14052A>C | XP_011509485.1:n.79+14052A>C |