Linked Data
dbSNP Id:
rs747800894
ExAC:
7:99358560 G / A
gnomAD v2:
7-99358560-G-A
gnomAD v4:
7-99760937-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760937G>A , CM000669.2:g.99760937G>A | GRCh38 |
| NC_000007.13:g.99358560G>A , CM000669.1:g.99358560G>A | GRCh37 |
| NC_000007.12:g.99196496G>A | NCBI36 |
| NG_008421.1:g.28249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1391C>T | ENSP00000337915.3:p.Thr464Ile | |
| ENST00000651162.1:n.733C>T | ||
| ENST00000651514.1:c.1298C>T MANE Select | ENSP00000498939.1:p.Thr433Ile | |
| ENST00000651783.1:c.839C>T | ENSP00000498924.1:p.Thr280Ile | |
| ENST00000652018.1:c.1151C>T | ENSP00000498733.1:p.Thr384Ile | |
| ENST00000336411.6:c.1298C>T | ENSP00000337915.2:p.Thr433Ile | |
| ENST00000354593.6:c.848C>T | ENSP00000346607.2:p.Thr283Ile | |
| NM_001202855.2:c.1295C>T | NP_001189784.1:p.Thr432Ile | |
| NM_017460.5:c.1298C>T | NP_059488.2:p.Thr433Ile | |
| XM_011515841.1:c.1391C>T | XP_011514143.1:p.Thr464Ile | |
| XM_011515842.1:c.1388C>T | XP_011514144.1:p.Thr463Ile | |
| NM_017460.6:c.1298C>T MANE Select | NP_059488.2:p.Thr433Ile | |
| NM_001202855.3:c.1295C>T | NP_001189784.1:p.Thr432Ile |