Linked Data
ClinVar Variation Id:
453028
dbSNP Id:
rs746414913
ExAC:
15:38643831 G / T
gnomAD v2:
15-38643831-G-T
gnomAD v4:
15-38351630-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351630G>T , CM000677.2:g.38351630G>T | GRCh38 |
| NC_000015.9:g.38643831G>T , CM000677.1:g.38643831G>T | GRCh37 |
| NC_000015.8:g.36431123G>T | NCBI36 |
| NG_008980.1:g.103780G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1301G>T MANE Select | ENSP00000299084.4:p.Gly434Val | |
| ENST00000299084.8:c.1301G>T | ENSP00000299084.4:p.Gly434Val | |
| NM_152594.2:c.1301G>T | NP_689807.1:p.Gly434Val | |
| XM_005254202.2:c.1337G>T | XP_005254259.1:p.Gly446Val | |
| XM_005254203.3:c.1079G>T | XP_005254260.1:p.Gly360Val | |
| XM_011521288.1:c.1238G>T | XP_011519590.1:p.Gly413Val | |
| XM_011521289.1:c.1238G>T | XP_011519591.1:p.Gly413Val | |
| XM_011521290.1:c.1238G>T | XP_011519592.1:p.Gly413Val | |
| XM_005254202.3:c.1337G>T | XP_005254259.1:p.Gly446Val | |
| XM_011521289.3:c.1238G>T | XP_011519591.1:p.Gly413Val | |
| NM_152594.3:c.1301G>T MANE Select | NP_689807.1:p.Gly434Val |