Linked Data
dbSNP Id:
rs200595311
ExAC:
2:233349206 T / C
gnomAD v2:
2-233349206-T-C
gnomAD v3:
2-232484496-T-C
gnomAD v4:
2-232484496-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232484496T>C , CM000664.2:g.232484496T>C | GRCh38 |
| NC_000002.11:g.233349206T>C , CM000664.1:g.233349206T>C | GRCh37 |
| NC_000002.10:g.233057450T>C | NCBI36 |
| NG_034065.1:g.8364A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.1160A>G MANE Select | ENSP00000302051.1:p.Gln387Arg | |
| ENST00000304546.5:c.1160A>G | ENSP00000302051.1:p.Gln387Arg | |
| ENST00000409941.1:c.1160A>G | ENSP00000386333.1:p.Gln387Arg | |
| ENST00000482346.1:n.1471A>G | ||
| NM_001290787.1:c.1160A>G | NP_001277716.1:p.Gln387Arg | |
| NM_004826.3:c.1160A>G | NP_004817.2:p.Gln387Arg | |
| NM_004826.4:c.1160A>G MANE Select | NP_004817.2:p.Gln387Arg | |
| NM_001290787.2:c.1160A>G | NP_001277716.1:p.Gln387Arg |