Linked Data
ClinVar Variation Id:
435757
dbSNP Id:
rs61999313
ExAC:
15:101109830 G / A
gnomAD v2:
15-101109830-G-A
gnomAD v3:
15-100569625-G-A
gnomAD v4:
15-100569625-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100569625G>A , CM000677.2:g.100569625G>A | GRCh38 |
| NC_000015.9:g.101109830G>A , CM000677.1:g.101109830G>A | GRCh37 |
| NC_000015.8:g.98927353G>A | NCBI36 |
| NG_034076.1:g.37616C>T | |
| NG_034076.2:g.38408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314742.13:c.1887C>T MANE Select | ENSP00000318423.8:p.Tyr629= | |
| ENST00000314742.12:c.1887C>T | ENSP00000318423.8:p.Tyr629= | |
| ENST00000559169.1:n.2162C>T | ||
| ENST00000560783.1:c.191+4026C>T | ||
| NM_001040616.2:c.1887C>T | NP_001035706.1:p.Tyr629= | |
| XM_005254941.1:c.1887C>T | XP_005254998.1:p.Tyr629= | |
| XM_005254943.1:c.1779C>T | XP_005255000.1:p.Tyr593= | |
| NM_001352507.1:c.1140C>T | NP_001339436.1:p.Tyr380= | |
| NM_001352508.1:c.1734C>T | NP_001339437.1:p.Tyr578= | |
| NR_148017.1:n.2066C>T | ||
| NR_148018.1:n.2054C>T | ||
| NR_148019.1:n.3349C>T | ||
| XM_005254941.2:c.1887C>T | XP_005254998.1:p.Tyr629= | |
| XM_005254943.2:c.1779C>T | XP_005255000.1:p.Tyr593= | |
| XM_017022399.2:c.1140C>T | XP_016877888.1:p.Tyr380= | |
| XM_017022400.2:c.1032C>T | XP_016877889.1:p.Tyr344= | |
| XM_024449979.1:c.1887C>T | XP_024305747.1:p.Tyr629= | |
| XM_024449980.1:c.1887C>T | XP_024305748.1:p.Tyr629= | |
| NM_001040616.3:c.1887C>T MANE Select | NP_001035706.2:p.Tyr629= | |
| NM_001352507.2:c.1140C>T | NP_001339436.1:p.Tyr380= | |
| NM_001352508.2:c.1734C>T | NP_001339437.1:p.Tyr578= | |
| NR_148017.2:n.2010C>T | ||
| NR_148018.2:n.1998C>T | ||
| NR_148019.2:n.3293C>T |