Linked Data
dbSNP Id:
rs776592814
ExAC:
8:99170125 A / G
gnomAD v2:
8-99170125-A-G
gnomAD v4:
8-98157897-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98157897A>G , CM000670.2:g.98157897A>G | GRCh38 |
| NC_000008.10:g.99170125A>G , CM000670.1:g.99170125A>G | GRCh37 |
| NC_000008.9:g.99239301A>G | NCBI36 |
| NG_052869.1:g.45605A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401707.7:c.2701A>G MANE Select | ENSP00000385787.2:p.Ser901Gly | |
| ENST00000349693.3:c.2701A>G | ENSP00000339529.3:p.Ser901Gly | |
| ENST00000401707.6:c.2701A>G | ENSP00000385787.2:p.Ser901Gly | |
| NM_001145860.1:c.2701A>G | NP_001139332.1:p.Ser901Gly | |
| NM_001145861.1:c.2701A>G | NP_001139333.1:p.Ser901Gly | |
| NM_015029.2:c.2701A>G | NP_055844.2:p.Ser901Gly | |
| NM_001145860.2:c.2701A>G MANE Select | NP_001139332.1:p.Ser901Gly | |
| NM_001145861.2:c.2701A>G | NP_001139333.1:p.Ser901Gly | |
| NM_015029.3:c.2701A>G | NP_055844.2:p.Ser901Gly |