Linked Data
dbSNP Id:
rs1293293949
gnomAD v2:
9-71831258-T-G
gnomAD v3:
9-69216342-T-G
gnomAD v4:
9-69216342-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69216342T>G , CM000671.2:g.69216342T>G | GRCh38 |
| NC_000009.11:g.71831258T>G , CM000671.1:g.71831258T>G | GRCh37 |
| NC_000009.10:g.71021078T>G | NCBI36 |
| NG_016342.1:g.100035T>G | |
| NG_016342.2:g.120436T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348208.9:c.118T>G | ENSP00000345893.4:p.Ser40Ala | |
| ENST00000377245.9:c.118T>G MANE Select | ENSP00000366453.4:p.Ser40Ala | |
| ENST00000423935.6:c.49T>G | ENSP00000402941.1:p.Ser17Ala | |
| ENST00000535702.6:c.130T>G | ENSP00000442090.1:p.Ser44Ala | |
| ENST00000539225.2:c.211T>G | ENSP00000438262.1:p.Ser71Ala | |
| ENST00000636247.1:n.197T>G | ||
| ENST00000636438.1:c.295T>G | ENSP00000489860.1:p.Ser99Ala | |
| ENST00000642889.1:c.505T>G | ENSP00000493780.1:p.Ser169Ala | |
| ENST00000643352.1:c.*306T>G | ENSP00000496488.1:n.*306T>G | |
| ENST00000643765.1:c.820T>G | ||
| ENST00000645088.1:c.*425T>G | ENSP00000495447.1:n.*425T>G | |
| ENST00000647986.1:c.49T>G | ENSP00000496877.1:p.Ser17Ala | |
| ENST00000648087.1:n.435T>G | ||
| ENST00000648402.1:c.49T>G | ENSP00000497596.1:p.Ser17Ala | |
| ENST00000649114.1:c.118T>G | ENSP00000497328.1:p.Ser40Ala | |
| ENST00000649134.1:c.130T>G | ENSP00000498068.1:p.Ser44Ala | |
| ENST00000649783.1:n.142T>G | ||
| ENST00000649939.1:c.49T>G | ENSP00000498043.1:p.Ser17Ala | |
| ENST00000649943.1:c.118T>G | ENSP00000497539.1:p.Ser40Ala | |
| ENST00000650084.1:c.121T>G | ENSP00000497861.1:p.Ser41Ala | |
| ENST00000650333.1:c.49T>G | ENSP00000496791.1:p.Ser17Ala | |
| ENST00000650378.1:n.146T>G | ||
| ENST00000650522.1:n.142T>G | ||
| ENST00000265384.11:c.118T>G | ENSP00000265384.7:p.Ser40Ala | |
| ENST00000348208.8:c.118T>G | ENSP00000345893.4:p.Ser40Ala | |
| ENST00000377245.8:c.118T>G | ENSP00000366453.4:p.Ser40Ala | |
| ENST00000377259.5:c.49T>G | ENSP00000366469.1:p.Ser17Ala | |
| ENST00000423935.5:c.49T>G | ENSP00000402941.1:p.Ser17Ala | |
| ENST00000453658.6:c.49T>G | ENSP00000392178.2:p.Ser17Ala | |
| ENST00000535702.5:c.130T>G | ENSP00000442090.1:p.Ser44Ala | |
| ENST00000539225.1:c.211T>G | ENSP00000438262.1:p.Ser71Ala | |
| ENST00000606364.5:c.49T>G | ENSP00000475926.1:p.Ser17Ala | |
| NM_001170414.2:c.49T>G | NP_001163885.1:p.Ser17Ala | |
| NM_001170415.1:c.130T>G | NP_001163886.1:p.Ser44Ala | |
| NM_001170416.1:c.211T>G | NP_001163887.1:p.Ser71Ala | |
| NM_001170630.1:c.118T>G | NP_001164101.1:p.Ser40Ala | |
| NM_004817.3:c.118T>G | NP_004808.2:p.Ser40Ala | |
| NM_201629.3:c.118T>G | NP_963923.1:p.Ser40Ala | |
| XM_005252314.1:c.130T>G | XP_005252371.1:p.Ser44Ala | |
| XM_006717324.2:c.112T>G | XP_006717387.1:p.Ser38Ala | |
| XM_011519204.1:c.49T>G | XP_011517506.1:p.Ser17Ala | |
| XM_011519205.1:c.49T>G | XP_011517507.1:p.Ser17Ala | |
| XM_011519206.1:c.49T>G | XP_011517508.1:p.Ser17Ala | |
| XM_011519207.1:c.49T>G | XP_011517509.1:p.Ser17Ala | |
| XM_011519208.1:c.49T>G | XP_011517510.1:p.Ser17Ala | |
| XM_011519209.1:c.49T>G | XP_011517511.1:p.Ser17Ala | |
| NM_004817.4:c.118T>G MANE Select | NP_004808.2:p.Ser40Ala | |
| XM_005252314.2:c.130T>G | XP_005252371.1:p.Ser44Ala | |
| XM_011519206.2:c.49T>G | XP_011517508.1:p.Ser17Ala | |
| XM_011519207.2:c.49T>G | XP_011517509.1:p.Ser17Ala | |
| XM_011519208.2:c.49T>G | XP_011517510.1:p.Ser17Ala | |
| XM_011519209.2:c.49T>G | XP_011517511.1:p.Ser17Ala | |
| XM_017015327.2:c.118T>G | XP_016870816.1:p.Ser40Ala | |
| XM_017015328.1:c.130T>G | XP_016870817.1:p.Ser44Ala | |
| NM_001170416.2:c.211T>G | NP_001163887.1:p.Ser71Ala | |
| NM_001369870.1:c.49T>G | NP_001356799.1:p.Ser17Ala | |
| NM_001369871.1:c.49T>G | NP_001356800.1:p.Ser17Ala | |
| NM_001369872.1:c.118T>G | NP_001356801.1:p.Ser40Ala | |
| NM_001369873.1:c.118T>G | NP_001356802.1:p.Ser40Ala | |
| NM_001369874.1:c.130T>G | NP_001356803.1:p.Ser44Ala | |
| NM_001369875.1:c.130T>G | NP_001356804.1:p.Ser44Ala |