Linked Data
ClinVar Variation Id:
1448483
dbSNP Id:
rs550201657
ExAC:
1:103444617 G / A
gnomAD v2:
1-103444617-G-A
gnomAD v3:
1-102979061-G-A
gnomAD v4:
1-102979061-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102979061G>A , CM000663.2:g.102979061G>A | GRCh38 |
| NC_000001.10:g.103444617G>A , CM000663.1:g.103444617G>A | GRCh37 |
| NC_000001.9:g.103217205G>A | NCBI36 |
| NG_008033.1:g.134436C>T | |
| NG_008033.2:g.134436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2654C>T MANE Select | ENSP00000359114.3:p.Thr885Met | |
| ENST00000353414.8:c.2537C>T | ENSP00000302551.6:p.Thr846Met | |
| ENST00000358392.6:c.2690C>T | ENSP00000351163.2:p.Thr897Met | |
| ENST00000370096.7:c.2654C>T | ENSP00000359114.3:p.Thr885Met | |
| ENST00000512756.5:c.2306C>T | ENSP00000426533.1:p.Thr769Met | |
| ENST00000635193.1:c.1988C>T | ||
| NM_001190709.1:c.2537C>T | NP_001177638.1:p.Thr846Met | |
| NM_001854.3:c.2654C>T | NP_001845.3:p.Thr885Met | |
| NM_080629.2:c.2690C>T | NP_542196.2:p.Thr897Met | |
| NM_080630.3:c.2306C>T | NP_542197.3:p.Thr769Met | |
| XM_011540719.1:c.2654C>T | XP_011539021.1:p.Thr885Met | |
| XM_011540720.1:c.887C>T | XP_011539022.1:p.Thr296Met | |
| XM_011540721.1:c.242C>T | XP_011539023.1:p.Thr81Met | |
| XR_946545.1:n.3068C>T | ||
| NR_134980.1:n.2988C>T | ||
| XM_017000334.1:c.2807C>T | XP_016855823.1:p.Thr936Met | |
| XM_017000335.1:c.2801C>T | XP_016855824.1:p.Thr934Met | |
| XM_017000336.1:c.2807C>T | XP_016855825.1:p.Thr936Met | |
| XM_017000337.1:c.1205C>T | XP_016855826.1:p.Thr402Met | |
| NM_001854.4:c.2654C>T MANE Select | NP_001845.3:p.Thr885Met | |
| NM_080630.4:c.2306C>T | NP_542197.3:p.Thr769Met | |
| NR_134980.2:n.3014C>T | ||
| NM_001190709.2:c.2537C>T | NP_001177638.1:p.Thr846Met | |
| NM_080629.3:c.2690C>T | NP_542196.2:p.Thr897Met |