Linked Data
ClinVar Variation Id:
245604
ClinVar RCV Id:
RCV000235759
dbSNP Id:
rs879253883
PubMed:
PMID:25981959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50323670G>A , CM000681.2:g.50323670G>A | GRCh38 |
| NC_000019.9:g.50826927G>A , CM000681.1:g.50826927G>A | GRCh37 |
| NC_000019.8:g.55518739G>A | NCBI36 |
| NG_008134.2:g.10708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477616.2:c.1283C>T MANE Select | ENSP00000434241.1:p.Thr428Ile | |
| ENST00000670667.1:c.1283C>T | ENSP00000499301.1:p.Thr428Ile | |
| ENST00000376959.6:c.1283C>T | ENSP00000366158.2:p.Thr428Ile | |
| ENST00000474951.1:c.-74-2886C>T | ENSP00000432438.1:n.-74-2886C>T | |
| ENST00000477616.1:c.1283C>T | ENSP00000434241.1:p.Thr428Ile | |
| NM_004977.2:c.1283C>T | NP_004968.2:p.Thr428Ile | |
| NR_110912.1:n.48-2886C>T | ||
| XM_006723203.2:c.1283C>T | XP_006723266.1:p.Thr428Ile | |
| XM_011526925.1:c.1283C>T | XP_011525227.1:p.Thr428Ile | |
| XM_011526926.1:c.1283C>T | XP_011525228.1:p.Thr428Ile | |
| XM_011526927.1:c.1283C>T | XP_011525229.1:p.Thr428Ile | |
| XM_011526928.1:c.1283C>T | XP_011525230.1:p.Thr428Ile | |
| NM_001372305.1:c.1055C>T | NP_001359234.1:p.Thr352Ile | |
| NM_004977.3:c.1283C>T MANE Select | NP_004968.2:p.Thr428Ile | |
| NR_110912.2:n.69-2886C>T |