Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134641824G>C , CM000671.2:g.134641824G>C | GRCh38 |
| NC_000009.11:g.137533670G>C , CM000671.1:g.137533670G>C | GRCh37 |
| NC_000009.10:g.136673491G>C | NCBI36 |
| NG_008030.1:g.5019G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000093.5:c.-364G>C MANE Select | NP_000084.3:n.-364G>C |
| ENST00000371817.8:c.-364G>C MANE Select | ENSP00000360882.3:n.-364G>C |
| NM_000093.4:c.-364G>C | NP_000084.3:n.-364G>C |
| NM_001278074.1:c.-364G>C | NP_001265003.1:n.-364G>C |
| ENST00000371817.7:c.-364G>C | ENSP00000360882.3:n.-364G>C |
| ENST00000371820.4:c.-364G>C | ENSP00000360885.4:n.-364G>C |
| ENST00000618395.4:c.-364G>C | ENSP00000481360.1:n.-364G>C |
| XM_017014266.2:c.-364G>C | XP_016869755.1:n.-364G>C |
| XR_001746183.1:n.35G>C | |
| XR_929712.1:n.39G>C | |
| XR_929713.1:n.39G>C |