Linked Data
ClinVar Variation Id:
522661
dbSNP Id:
rs757041827
ExAC:
1:155210432 G / A
gnomAD v2:
1-155210432-G-A
gnomAD v3:
1-155240641-G-A
gnomAD v4:
1-155240641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155240641G>A , CM000663.2:g.155240641G>A | GRCh38 |
| NC_000001.10:g.155210432G>A , CM000663.1:g.155210432G>A | GRCh37 |
| NC_000001.9:g.153477056G>A | NCBI36 |
| NG_009783.1:g.9057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.104C>T MANE Select | ENSP00000357357.3:p.Ser35Leu | |
| ENST00000327247.9:c.104C>T | ENSP00000314508.5:p.Ser35Leu | |
| ENST00000368373.7:c.104C>T | ENSP00000357357.3:p.Ser35Leu | |
| ENST00000427500.7:c.104C>T | ENSP00000402577.2:p.Ser35Leu | |
| ENST00000428024.3:c.-146-564C>T | ENSP00000397986.2:n.-146-564C>T | |
| ENST00000467918.5:n.409C>T | ||
| ENST00000470104.1:n.235C>T | ||
| ENST00000473570.5:n.425C>T | ||
| ENST00000484489.5:n.223C>T | ||
| ENST00000493842.5:n.442C>T | ||
| NM_000157.3:c.104C>T | NP_000148.2:p.Ser35Leu | |
| NM_001005741.2:c.104C>T | NP_001005741.1:p.Ser35Leu | |
| NM_001005742.2:c.104C>T | NP_001005742.1:p.Ser35Leu | |
| NM_001171811.1:c.-146-564C>T | NP_001165282.1:n.-146-564C>T | |
| NM_001171812.1:c.104C>T | NP_001165283.1:p.Ser35Leu | |
| XM_006711270.1:c.104C>T | XP_006711333.1:p.Ser35Leu | |
| XM_011509407.1:c.104C>T | XP_011507709.1:p.Ser35Leu | |
| NM_000157.4:c.104C>T MANE Select | NP_000148.2:p.Ser35Leu | |
| NM_001005741.3:c.104C>T | NP_001005741.1:p.Ser35Leu | |
| NM_001005742.3:c.104C>T | NP_001005742.1:p.Ser35Leu | |
| NM_001171811.2:c.-146-564C>T | NP_001165282.1:n.-146-564C>T | |
| NM_001171812.2:c.104C>T | NP_001165283.1:p.Ser35Leu |