Linked Data
ClinVar Variation Id:
569205
dbSNP Id:
rs1400239417
gnomAD v2:
2-29443622-T-A
gnomAD v3:
2-29220756-T-A
gnomAD v4:
2-29220756-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220756T>A , CM000664.2:g.29220756T>A | GRCh38 |
| NC_000002.11:g.29443622T>A , CM000664.1:g.29443622T>A | GRCh37 |
| NC_000002.10:g.29297126T>A | NCBI36 |
| NG_009445.1:g.705811A>T , LRG_488:g.705811A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3595A>T MANE Select | ENSP00000373700.3:p.Met1199Leu | |
| ENST00000431873.6:c.822A>T | ||
| ENST00000638605.1:n.472A>T | ||
| ENST00000642122.1:c.391A>T | ENSP00000493203.1:p.Met131Leu | |
| ENST00000389048.7:c.3595A>T | ENSP00000373700.3:p.Met1199Leu | |
| ENST00000431873.5:c.475A>T | ENSP00000414027.2:p.Met159Leu | |
| ENST00000618119.4:c.2464A>T | ENSP00000482733.1:p.Met822Leu | |
| NM_004304.4:c.3595A>T | NP_004295.2:p.Met1199Leu | |
| NM_001353765.1:c.391A>T | NP_001340694.1:p.Met131Leu | |
| XM_024452778.1:c.748A>T | XP_024308546.1:p.Met250Leu | |
| XM_024452779.1:c.391A>T | XP_024308547.1:p.Met131Leu | |
| NM_004304.5:c.3595A>T MANE Select | NP_004295.2:p.Met1199Leu | |
| NM_001353765.2:c.391A>T | NP_001340694.1:p.Met131Leu |