gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154378C>A , CM000664.2:g.169154378C>A | GRCh38 |
| NC_000002.11:g.170010888C>A , CM000664.1:g.170010888C>A | GRCh37 |
| NC_000002.10:g.169719134C>A | NCBI36 |
| NG_012634.1:g.213235G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12295+82G>T MANE Select | ENSP00000496870.1:n.12295+82G>T | |
| ENST00000649153.1:c.3195+82G>T | ||
| ENST00000650252.1:c.1323+82G>T | ENSP00000496887.1:n.1323+82G>T | |
| ENST00000263816.7:c.12295+82G>T | ENSP00000263816.3:n.12295+82G>T | |
| NM_004525.2:c.12295+82G>T | NP_004516.2:n.12295+82G>T | |
| XM_011511183.1:c.12166+82G>T | XP_011509485.1:n.12166+82G>T | |
| XM_011511184.1:c.10006+82G>T | XP_011509486.1:n.10006+82G>T | |
| NM_004525.3:c.12295+82G>T MANE Select | NP_004516.2:n.12295+82G>T | |
| XM_011511183.3:c.12166+82G>T | XP_011509485.1:n.12166+82G>T | |
| XM_011511184.2:c.10006+82G>T | XP_011509486.1:n.10006+82G>T |