Linked Data
ClinVar Variation Id:
161229
dbSNP Id:
rs148002300
ExAC:
9:130578230 G / A
gnomAD v2:
9-130578230-G-A
gnomAD v3:
9-127815951-G-A
gnomAD v4:
9-127815951-G-A
ERepo:
CA211415/MONDO:0008535/136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815951G>A , CM000671.2:g.127815951G>A | GRCh38 |
| NC_000009.11:g.130578230G>A , CM000671.1:g.130578230G>A | GRCh37 |
| NC_000009.10:g.129618051G>A | NCBI36 |
| NG_009551.1:g.43818C>T , LRG_589:g.43818C>T | |
| NG_023245.1:g.18077G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1298C>T | ENSP00000479015.1:p.Ser433Leu | |
| ENST00000373203.9:c.1844C>T MANE Select | ENSP00000362299.4:p.Ser615Leu | |
| ENST00000344849.4:c.1844C>T | ENSP00000341917.3:p.Ser615Leu | |
| ENST00000373203.8:c.1844C>T | ENSP00000362299.4:p.Ser615Leu | |
| ENST00000480266.5:c.1298C>T | ENSP00000479015.1:p.Ser433Leu | |
| NM_000118.3:c.1844C>T , LRG_589t1:c.1844C>T | NP_000109.1:p.Ser615Leu | |
| NM_001114753.2:c.1844C>T , LRG_589t2:c.1844C>T | NP_001108225.1:p.Ser615Leu | |
| NM_001278138.1:c.1298C>T | NP_001265067.1:p.Ser433Leu | |
| NM_001114753.3:c.1844C>T MANE Select | NP_001108225.1:p.Ser615Leu | |
| NM_001278138.2:c.1298C>T | NP_001265067.1:p.Ser433Leu |