Linked Data
ClinVar Variation Id:
1444853
dbSNP Id:
rs765841849
ExAC:
15:38643452 T / G
gnomAD v2:
15-38643452-T-G
gnomAD v3:
15-38351251-T-G
gnomAD v4:
15-38351251-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351251T>G , CM000677.2:g.38351251T>G | GRCh38 |
| NC_000015.9:g.38643452T>G , CM000677.1:g.38643452T>G | GRCh37 |
| NC_000015.8:g.36430744T>G | NCBI36 |
| NG_008980.1:g.103401T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.922T>G MANE Select | ENSP00000299084.4:p.Ser308Ala | |
| ENST00000299084.8:c.922T>G | ENSP00000299084.4:p.Ser308Ala | |
| NM_152594.2:c.922T>G | NP_689807.1:p.Ser308Ala | |
| XM_005254202.2:c.958T>G | XP_005254259.1:p.Ser320Ala | |
| XM_005254203.3:c.700T>G | XP_005254260.1:p.Ser234Ala | |
| XM_011521288.1:c.859T>G | XP_011519590.1:p.Ser287Ala | |
| XM_011521289.1:c.859T>G | XP_011519591.1:p.Ser287Ala | |
| XM_011521290.1:c.859T>G | XP_011519592.1:p.Ser287Ala | |
| XM_005254202.3:c.958T>G | XP_005254259.1:p.Ser320Ala | |
| XM_011521289.3:c.859T>G | XP_011519591.1:p.Ser287Ala | |
| NM_152594.3:c.922T>G MANE Select | NP_689807.1:p.Ser308Ala |