Linked Data
dbSNP Id:
rs779920114
ExAC:
15:75012833 A / G
gnomAD v2:
15-75012833-A-G
gnomAD v4:
15-74720492-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720492A>G , CM000677.2:g.74720492A>G | GRCh38 |
| NC_000015.9:g.75012833A>G , CM000677.1:g.75012833A>G | GRCh37 |
| NC_000015.8:g.72799886A>G | NCBI36 |
| NG_008431.1:g.2951A>G | |
| NG_008431.2:g.2951A>G | |
| NG_061374.1:g.10037T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.1536T>C MANE Select | ENSP00000369050.3:p.Ser512= | |
| ENST00000379727.7:c.1536T>C | ENSP00000369050.3:p.Ser512= | |
| ENST00000395048.6:c.1536T>C | ENSP00000378488.2:p.Ser512= | |
| ENST00000395049.8:c.1449T>C | ENSP00000378489.4:p.Ser483= | |
| ENST00000567032.5:c.1536T>C | ENSP00000456585.1:p.Ser512= | |
| ENST00000612821.4:c.1452T>C | ENSP00000479744.1:p.Ser484= | |
| ENST00000617691.4:c.1449T>C | ENSP00000482863.1:p.Ser483= | |
| NM_000499.3:c.1536T>C | NP_000490.1:p.Ser512= | |
| XM_005254185.1:c.1536T>C | XP_005254242.1:p.Ser512= | |
| NM_000499.5:c.1536T>C | NP_000490.1:p.Ser512= | |
| NM_001319216.2:c.1449T>C | NP_001306145.1:p.Ser483= | |
| NM_001319217.2:c.1536T>C MANE Select | NP_001306146.1:p.Ser512= |