Linked Data
ClinVar Variation Id:
1134265
ClinVar RCV Id:
RCV001469105
dbSNP Id:
rs919325069
gnomAD v3:
15-74890606-C-T
gnomAD v4:
15-74890606-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74890606C>T , CM000677.2:g.74890606C>T | GRCh38 |
| NC_000015.9:g.75182947C>T , CM000677.1:g.75182947C>T | GRCh37 |
| NC_000015.8:g.72970000C>T | NCBI36 |
| NG_008921.1:g.5538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.96C>T MANE Select | ENSP00000318318.6:p.Ala32= | |
| ENST00000323744.10:c.96C>T | ENSP00000318192.6:p.Ala32= | |
| ENST00000352410.8:c.96C>T | ENSP00000318318.6:p.Ala32= | |
| ENST00000535694.5:c.-7+517C>T | ENSP00000440447.1:n.-7+517C>T | |
| ENST00000561470.5:c.208C>T | ENSP00000454267.1:p.Gln70Ter | |
| ENST00000562606.5:c.36C>T | ENSP00000457020.1:p.Ala12= | |
| ENST00000562800.5:c.96C>T | ENSP00000457619.1:p.Ala32= | |
| ENST00000563422.5:c.96C>T | ENSP00000457885.1:p.Ala32= | |
| ENST00000563786.5:c.36C>T | ENSP00000455241.1:p.Ala12= | |
| ENST00000564003.5:c.-7+517C>T | ENSP00000454312.1:n.-7+517C>T | |
| ENST00000564633.5:c.36C>T | ENSP00000455383.1:p.Ala12= | |
| ENST00000565576.5:c.96C>T | ENSP00000454619.1:p.Ala32= | |
| ENST00000566377.5:c.96C>T | ENSP00000455405.1:p.Ala32= | |
| ENST00000567116.5:n.127C>T | ||
| ENST00000567132.5:c.96C>T | ENSP00000455972.1:p.Ala32= | |
| ENST00000567177.1:c.57C>T | ENSP00000457013.1:p.Ala19= | |
| ENST00000567570.5:c.36C>T | ENSP00000455477.1:p.Ala12= | |
| ENST00000568303.1:n.213C>T | ||
| ENST00000568828.5:c.96C>T | ENSP00000455065.1:p.Ala32= | |
| ENST00000568840.1:n.205C>T | ||
| ENST00000568907.5:c.96C>T | ENSP00000457494.1:p.Ala32= | |
| ENST00000569233.5:c.96C>T | ENSP00000454622.1:p.Ala32= | |
| ENST00000569931.5:c.36C>T | ENSP00000455161.1:p.Ala12= | |
| NM_001289155.1:c.96C>T | NP_001276084.1:p.Ala32= | |
| NM_001289156.1:c.-7+517C>T | NP_001276085.1:n.-7+517C>T | |
| NM_001289157.1:c.96C>T | NP_001276086.1:p.Ala32= | |
| NM_002435.2:c.96C>T | NP_002426.1:p.Ala32= | |
| XM_011521592.1:c.84C>T | XP_011519894.1:p.Ala28= | |
| XM_011521593.1:c.36C>T | XP_011519895.1:p.Ala12= | |
| NM_001330372.1:c.36C>T | NP_001317301.1:p.Ala12= | |
| XM_017022208.1:c.36C>T | XP_016877697.1:p.Ala12= | |
| XM_017022209.2:c.-7+517C>T | XP_016877698.1:n.-7+517C>T | |
| NM_002435.3:c.96C>T MANE Select | NP_002426.1:p.Ala32= | |
| NM_001289155.2:c.96C>T | NP_001276084.1:p.Ala32= | |
| NM_001289156.2:c.-7+517C>T | NP_001276085.1:n.-7+517C>T | |
| NM_001289157.2:c.96C>T | NP_001276086.1:p.Ala32= | |
| NM_001330372.2:c.36C>T | NP_001317301.1:p.Ala12= |