Linked Data
dbSNP Id:
rs1476116119
gnomAD v4:
15-38351178-T-G
MyVariant Identifiers:
chr15:g.38643379T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351178T>G , CM000677.2:g.38351178T>G | GRCh38 |
| NC_000015.9:g.38643379T>G , CM000677.1:g.38643379T>G | GRCh37 |
| NC_000015.8:g.36430671T>G | NCBI36 |
| NG_008980.1:g.103328T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.849T>G MANE Select | ENSP00000299084.4:p.Ser283= | |
| ENST00000299084.8:c.849T>G | ENSP00000299084.4:p.Ser283= | |
| NM_152594.2:c.849T>G | NP_689807.1:p.Ser283= | |
| XM_005254202.2:c.885T>G | XP_005254259.1:p.Ser295= | |
| XM_005254203.3:c.627T>G | XP_005254260.1:p.Ser209= | |
| XM_011521288.1:c.786T>G | XP_011519590.1:p.Ser262= | |
| XM_011521289.1:c.786T>G | XP_011519591.1:p.Ser262= | |
| XM_011521290.1:c.786T>G | XP_011519592.1:p.Ser262= | |
| XM_005254202.3:c.885T>G | XP_005254259.1:p.Ser295= | |
| XM_011521289.3:c.786T>G | XP_011519591.1:p.Ser262= | |
| NM_152594.3:c.849T>G MANE Select | NP_689807.1:p.Ser283= |