gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134795057T>G , CM000671.2:g.134795057T>G | GRCh38 |
| NC_000009.11:g.137686903T>G , CM000671.1:g.137686903T>G | GRCh37 |
| NC_000009.10:g.136826724T>G | NCBI36 |
| NG_008030.1:g.158252T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.2701-25T>G | ENSP00000360885.4:n.2701-25T>G | |
| ENST00000371817.8:c.2701-25T>G MANE Select | ENSP00000360882.3:n.2701-25T>G | |
| ENST00000371817.7:c.2701-25T>G | ENSP00000360882.3:n.2701-25T>G | |
| ENST00000618395.4:c.2701-25T>G | ENSP00000481360.1:n.2701-25T>G | |
| NM_000093.4:c.2701-25T>G | NP_000084.3:n.2701-25T>G | |
| NM_001278074.1:c.2701-25T>G | NP_001265003.1:n.2701-25T>G | |
| XR_929712.1:n.3103-25T>G | ||
| XR_929713.1:n.3103-25T>G | ||
| XM_017014266.2:c.2701-25T>G | XP_016869755.1:n.2701-25T>G | |
| XR_001746183.1:n.3099-25T>G | ||
| NM_000093.5:c.2701-25T>G MANE Select | NP_000084.3:n.2701-25T>G |