Linked Data
dbSNP Id:
rs747754718
ExAC:
9:38396476 C / T
gnomAD v2:
9-38396476-C-T
gnomAD v3:
9-38396479-C-T
gnomAD v4:
9-38396479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396479C>T , CM000671.2:g.38396479C>T | GRCh38 |
| NC_000009.11:g.38396476C>T , CM000671.1:g.38396476C>T | GRCh37 |
| NC_000009.10:g.38386476C>T | NCBI36 |
| NG_012253.1:g.8775C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.731C>T MANE Select | ENSP00000366927.3:p.Thr244Ile | |
| ENST00000377698.3:c.731C>T | ENSP00000366927.3:p.Thr244Ile | |
| NM_000692.4:c.731C>T | NP_000683.3:p.Thr244Ile | |
| XM_011517802.1:c.731C>T | XP_011516104.1:p.Thr244Ile | |
| XM_011517802.2:c.731C>T | XP_011516104.1:p.Thr244Ile | |
| NM_000692.5:c.731C>T MANE Select | NP_000683.3:p.Thr244Ile |