Linked Data
dbSNP Id:
rs141318309
ExAC:
2:10188522 C / G
gnomAD v2:
2-10188522-C-G
gnomAD v3:
2-10048395-C-G
gnomAD v4:
2-10048395-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10048395C>G , CM000664.2:g.10048395C>G | GRCh38 |
| NC_000002.11:g.10188522C>G , CM000664.1:g.10188522C>G | GRCh37 |
| NC_000002.10:g.10105973C>G | NCBI36 |
| NG_017199.1:g.9841C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305883.6:c.1058C>G MANE Select | ENSP00000307023.1:p.Pro353Arg | |
| ENST00000305883.5:c.1058C>G | ENSP00000307023.1:p.Pro353Arg | |
| ENST00000535335.1:c.1007C>G | ENSP00000442722.1:p.Pro336Arg | |
| ENST00000540845.5:c.1007C>G | ENSP00000444690.1:p.Pro336Arg | |
| NM_001177716.1:c.1007C>G | NP_001171187.1:p.Pro336Arg | |
| NM_001177718.1:c.1007C>G | NP_001171189.1:p.Pro336Arg | |
| NM_003597.4:c.1058C>G | NP_003588.1:p.Pro353Arg | |
| XM_005246179.3:c.1007C>G | XP_005246236.1:p.Pro336Arg | |
| NM_003597.5:c.1058C>G MANE Select | NP_003588.1:p.Pro353Arg | |
| NM_001177716.2:c.1007C>G | NP_001171187.1:p.Pro336Arg | |
| NM_001177718.2:c.1007C>G | NP_001171189.1:p.Pro336Arg |