Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46889926C>T , CM000673.2:g.46889926C>T | GRCh38 |
| NC_000011.9:g.46911477C>T , CM000673.1:g.46911477C>T | GRCh37 |
| NC_000011.8:g.46868053C>T | NCBI36 |
| NG_021394.1:g.33697G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002334.4:c.2092+18G>A MANE Select | NP_002325.2:n.2092+18G>A |
| ENST00000378623.6:c.2092+18G>A MANE Select | ENSP00000367888.1:n.2092+18G>A |
| NM_002334.3:c.2092+18G>A | NP_002325.2:n.2092+18G>A |
| ENST00000378623.5:c.2092+18G>A | ENSP00000367888.1:n.2092+18G>A |
| XM_011520102.1:c.2305+18G>A | XP_011518404.1:n.2305+18G>A |
| XM_011520103.1:c.1288+18G>A | XP_011518405.1:n.1288+18G>A |
| XM_011520103.2:c.1288+18G>A | XP_011518405.1:n.1288+18G>A |
| XM_017017734.1:c.2092+18G>A | XP_016873223.1:n.2092+18G>A |