Linked Data
dbSNP Id:
rs757559755
ExAC:
9:38396508 G / T
gnomAD v2:
9-38396508-G-T
gnomAD v4:
9-38396511-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396511G>T , CM000671.2:g.38396511G>T | GRCh38 |
| NC_000009.11:g.38396508G>T , CM000671.1:g.38396508G>T | GRCh37 |
| NC_000009.10:g.38386508G>T | NCBI36 |
| NG_012253.1:g.8807G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.763G>T MANE Select | ENSP00000366927.3:p.Val255Phe | |
| ENST00000377698.3:c.763G>T | ENSP00000366927.3:p.Val255Phe | |
| NM_000692.4:c.763G>T | NP_000683.3:p.Val255Phe | |
| XM_011517802.1:c.763G>T | XP_011516104.1:p.Val255Phe | |
| XM_011517802.2:c.763G>T | XP_011516104.1:p.Val255Phe | |
| NM_000692.5:c.763G>T MANE Select | NP_000683.3:p.Val255Phe |