Linked Data
ClinVar Variation Id:
129971
dbSNP Id:
rs2304796
ExAC:
15:90210257 G / A
gnomAD v2:
15-90210257-G-A
gnomAD v3:
15-89667026-G-A
gnomAD v4:
15-89667026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89667026G>A , CM000677.2:g.89667026G>A | GRCh38 |
| NC_000015.9:g.90210257G>A , CM000677.1:g.90210257G>A | GRCh37 |
| NC_000015.8:g.88011261G>A | NCBI36 |
| NG_029172.1:g.17392C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300055.10:c.1119C>T MANE Select | ENSP00000300055.5:p.Val373= | |
| ENST00000300055.9:c.1119C>T | ENSP00000300055.5:p.Val373= | |
| ENST00000430628.2:c.1119C>T | ENSP00000402167.2:p.Val373= | |
| ENST00000560330.1:c.123+72C>T | ENSP00000453426.1:n.123+72C>T | |
| NM_001145311.1:c.1119C>T | NP_001138783.1:p.Val373= | |
| NM_002666.4:c.1119C>T | NP_002657.3:p.Val373= | |
| XM_005254934.3:c.1119C>T | XP_005254991.1:p.Val373= | |
| XM_005254934.4:c.1119C>T | XP_005254991.1:p.Val373= | |
| NM_002666.5:c.1119C>T MANE Select | NP_002657.3:p.Val373= | |
| NM_001145311.2:c.1119C>T | NP_001138783.1:p.Val373= |