Linked Data
ClinVar Variation Id:
1135279
ClinVar RCV Id:
RCV001470468
dbSNP Id:
rs1280433010
gnomAD v3:
15-74890633-A-G
gnomAD v4:
15-74890633-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74890633A>G , CM000677.2:g.74890633A>G | GRCh38 |
| NC_000015.9:g.75182974A>G , CM000677.1:g.75182974A>G | GRCh37 |
| NC_000015.8:g.72970027A>G | NCBI36 |
| NG_008921.1:g.5565A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.123A>G MANE Select | ENSP00000318318.6:p.Ala41= | |
| ENST00000323744.10:c.123A>G | ENSP00000318192.6:p.Ala41= | |
| ENST00000352410.8:c.123A>G | ENSP00000318318.6:p.Ala41= | |
| ENST00000535694.5:c.-7+544A>G | ENSP00000440447.1:n.-7+544A>G | |
| ENST00000561470.5:c.*19A>G | ENSP00000454267.1:n.*19A>G | |
| ENST00000562606.5:c.63A>G | ENSP00000457020.1:p.Ala21= | |
| ENST00000562800.5:c.123A>G | ENSP00000457619.1:p.Ala41= | |
| ENST00000563422.5:c.123A>G | ENSP00000457885.1:p.Ala41= | |
| ENST00000563786.5:c.63A>G | ENSP00000455241.1:p.Ala21= | |
| ENST00000564003.5:c.-7+544A>G | ENSP00000454312.1:n.-7+544A>G | |
| ENST00000564633.5:c.63A>G | ENSP00000455383.1:p.Ala21= | |
| ENST00000565576.5:c.123A>G | ENSP00000454619.1:p.Ala41= | |
| ENST00000566377.5:c.123A>G | ENSP00000455405.1:p.Ala41= | |
| ENST00000567116.5:n.154A>G | ||
| ENST00000567132.5:c.123A>G | ENSP00000455972.1:p.Ala41= | |
| ENST00000567177.1:c.84A>G | ENSP00000457013.1:p.Ala28= | |
| ENST00000567570.5:c.63A>G | ENSP00000455477.1:p.Ala21= | |
| ENST00000568303.1:n.240A>G | ||
| ENST00000568828.5:c.123A>G | ENSP00000455065.1:p.Ala41= | |
| ENST00000568840.1:n.232A>G | ||
| ENST00000568907.5:c.123A>G | ENSP00000457494.1:p.Ala41= | |
| ENST00000569233.5:c.123A>G | ENSP00000454622.1:p.Ala41= | |
| ENST00000569931.5:c.63A>G | ENSP00000455161.1:p.Ala21= | |
| NM_001289155.1:c.123A>G | NP_001276084.1:p.Ala41= | |
| NM_001289156.1:c.-7+544A>G | NP_001276085.1:n.-7+544A>G | |
| NM_001289157.1:c.123A>G | NP_001276086.1:p.Ala41= | |
| NM_002435.2:c.123A>G | NP_002426.1:p.Ala41= | |
| XM_011521592.1:c.111A>G | XP_011519894.1:p.Ala37= | |
| XM_011521593.1:c.63A>G | XP_011519895.1:p.Ala21= | |
| NM_001330372.1:c.63A>G | NP_001317301.1:p.Ala21= | |
| XM_017022208.1:c.63A>G | XP_016877697.1:p.Ala21= | |
| XM_017022209.2:c.-7+544A>G | XP_016877698.1:n.-7+544A>G | |
| NM_002435.3:c.123A>G MANE Select | NP_002426.1:p.Ala41= | |
| NM_001289155.2:c.123A>G | NP_001276084.1:p.Ala41= | |
| NM_001289156.2:c.-7+544A>G | NP_001276085.1:n.-7+544A>G | |
| NM_001289157.2:c.123A>G | NP_001276086.1:p.Ala41= | |
| NM_001330372.2:c.63A>G | NP_001317301.1:p.Ala21= |