Linked Data
ClinVar Variation Id:
527994
ClinVar RCV Id:
RCV000633038
dbSNP Id:
rs768026274
ExAC:
15:51207645 A / C
gnomAD v2:
15-51207645-A-C
gnomAD v4:
15-50915448-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50915448A>C , CM000677.2:g.50915448A>C | GRCh38 |
| NC_000015.9:g.51207645A>C , CM000677.1:g.51207645A>C | GRCh37 |
| NC_000015.8:g.48994937A>C | NCBI36 |
| NG_031875.1:g.11777A>C | |
| NG_031875.2:g.11777A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261842.10:c.223A>C MANE Select | ENSP00000261842.5:p.Lys75Gln | |
| ENST00000261842.9:c.223A>C | ENSP00000261842.5:p.Lys75Gln | |
| ENST00000558439.5:c.223A>C | ENSP00000452712.1:p.Lys75Gln | |
| ENST00000560508.1:c.-3A>C | ENSP00000452976.1:n.-3A>C | |
| ENST00000561393.5:c.-3A>C | ENSP00000452711.1:n.-3A>C | |
| ENST00000561441.5:c.223A>C | ENSP00000453112.1:p.Lys75Gln | |
| NM_001252127.1:c.-3A>C | NP_001239056.1:n.-3A>C | |
| NM_007347.4:c.223A>C | NP_031373.2:p.Lys75Gln | |
| XM_005254264.2:c.-3A>C | XP_005254321.1:n.-3A>C | |
| XM_006720447.2:c.-3A>C | XP_006720510.1:n.-3A>C | |
| XM_011521408.1:c.43A>C | XP_011519710.1:p.Lys15Gln | |
| XM_011521409.1:c.-1218A>C | XP_011519711.1:n.-1218A>C | |
| XM_005254264.4:c.-3A>C | XP_005254321.1:n.-3A>C | |
| XM_006720447.4:c.-3A>C | XP_006720510.1:n.-3A>C | |
| XM_017022042.2:c.-748A>C | XP_016877531.1:n.-748A>C | |
| XR_001751183.1:n.330A>C | ||
| XR_001751184.1:n.330A>C | ||
| XR_001751185.1:n.330A>C | ||
| NM_007347.5:c.223A>C MANE Select | NP_031373.2:p.Lys75Gln | |
| NM_001252127.2:c.-3A>C | NP_001239056.1:n.-3A>C |