Linked Data
ClinVar Variation Id:
94070
dbSNP Id:
rs199972529
ExAC:
15:75188500 C / A
gnomAD v2:
15-75188500-C-A
gnomAD v3:
15-74896159-C-A
gnomAD v4:
15-74896159-C-A
COSMIC:
COSM1938941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74896159C>A , CM000677.2:g.74896159C>A | GRCh38 |
| NC_000015.9:g.75188500C>A , CM000677.1:g.75188500C>A | GRCh37 |
| NC_000015.8:g.72975553C>A | NCBI36 |
| NG_008921.1:g.11091C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352410.9:c.678C>A MANE Select | ENSP00000318318.6:p.Ala226= | |
| ENST00000323744.10:c.495C>A | ENSP00000318192.6:p.Ala165= | |
| ENST00000352410.8:c.678C>A | ENSP00000318318.6:p.Ala226= | |
| ENST00000535694.5:c.528C>A | ENSP00000440447.1:p.Ala176= | |
| ENST00000561470.5:c.*574C>A | ENSP00000454267.1:n.*574C>A | |
| ENST00000562606.5:c.618C>A | ENSP00000457020.1:p.Ala206= | |
| ENST00000562800.5:c.256-1380C>A | ENSP00000457619.1:n.256-1380C>A | |
| ENST00000563422.5:c.678C>A | ENSP00000457885.1:p.Ala226= | |
| ENST00000563786.5:c.618C>A | ENSP00000455241.1:p.Ala206= | |
| ENST00000564003.5:c.345C>A | ENSP00000454312.1:p.Ala115= | |
| ENST00000566377.5:c.678C>A | ENSP00000455405.1:p.Ala226= | |
| ENST00000566556.1:n.726C>A | ||
| ENST00000567177.1:c.456C>A | ENSP00000457013.1:p.Ala152= | |
| ENST00000569931.5:c.618C>A | ENSP00000455161.1:p.Ala206= | |
| NM_001289155.1:c.678C>A | NP_001276084.1:p.Ala226= | |
| NM_001289156.1:c.528C>A | NP_001276085.1:p.Ala176= | |
| NM_001289157.1:c.495C>A | NP_001276086.1:p.Ala165= | |
| NM_002435.2:c.678C>A | NP_002426.1:p.Ala226= | |
| XM_011521592.1:c.666C>A | XP_011519894.1:p.Ala222= | |
| XM_011521593.1:c.618C>A | XP_011519895.1:p.Ala206= | |
| NM_001330372.1:c.618C>A | NP_001317301.1:p.Ala206= | |
| XM_017022208.1:c.618C>A | XP_016877697.1:p.Ala206= | |
| XM_017022209.2:c.528C>A | XP_016877698.1:p.Ala176= | |
| NM_002435.3:c.678C>A MANE Select | NP_002426.1:p.Ala226= | |
| NM_001289155.2:c.678C>A | NP_001276084.1:p.Ala226= | |
| NM_001289156.2:c.528C>A | NP_001276085.1:p.Ala176= | |
| NM_001289157.2:c.495C>A | NP_001276086.1:p.Ala165= | |
| NM_001330372.2:c.618C>A | NP_001317301.1:p.Ala206= |