Linked Data
dbSNP Id:
rs765104543
ExAC:
15:75013037 A / G
gnomAD v2:
15-75013037-A-G
gnomAD v3:
15-74720696-A-G
gnomAD v4:
15-74720696-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720696A>G , CM000677.2:g.74720696A>G | GRCh38 |
| NC_000015.9:g.75013037A>G , CM000677.1:g.75013037A>G | GRCh37 |
| NC_000015.8:g.72800090A>G | NCBI36 |
| NG_008431.1:g.3155A>G | |
| NG_008431.2:g.3155A>G | |
| NG_061374.1:g.9833T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.1332T>C MANE Select | ENSP00000369050.3:p.Ser444= | |
| ENST00000379727.7:c.1332T>C | ENSP00000369050.3:p.Ser444= | |
| ENST00000395048.6:c.1332T>C | ENSP00000378488.2:p.Ser444= | |
| ENST00000395049.8:c.1245T>C | ENSP00000378489.4:p.Ser415= | |
| ENST00000567032.5:c.1332T>C | ENSP00000456585.1:p.Ser444= | |
| ENST00000612821.4:c.1248T>C | ENSP00000479744.1:p.Ser416= | |
| ENST00000617691.4:c.1245T>C | ENSP00000482863.1:p.Ser415= | |
| NM_000499.3:c.1332T>C | NP_000490.1:p.Ser444= | |
| XM_005254185.1:c.1332T>C | XP_005254242.1:p.Ser444= | |
| NM_000499.5:c.1332T>C | NP_000490.1:p.Ser444= | |
| NM_001319216.2:c.1245T>C | NP_001306145.1:p.Ser415= | |
| NM_001319217.2:c.1332T>C MANE Select | NP_001306146.1:p.Ser444= |