Linked Data
dbSNP Id:
rs17245714
ExAC:
5:34998894 G / C
gnomAD v2:
5-34998894-G-C
gnomAD v3:
5-34998789-G-C
gnomAD v4:
5-34998789-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34998789G>C , CM000667.2:g.34998789G>C | GRCh38 |
| NC_000005.9:g.34998894G>C , CM000667.1:g.34998894G>C | GRCh37 |
| NC_000005.8:g.35034651G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231420.11:c.1475C>G MANE Select | ENSP00000231420.6:p.Pro492Arg | |
| ENST00000231420.10:c.1475C>G | ENSP00000231420.6:p.Pro492Arg | |
| ENST00000510428.1:c.1250C>G | ENSP00000422799.1:p.Pro417Arg | |
| ENST00000512135.5:n.1145C>G | ||
| ENST00000618015.4:c.1250C>G | ENSP00000479154.1:p.Pro417Arg | |
| NM_001306173.1:c.1250C>G | NP_001293102.1:p.Pro417Arg | |
| NM_031900.3:c.1475C>G | NP_114106.1:p.Pro492Arg | |
| XM_005248337.2:c.1472C>G | XP_005248394.1:p.Pro491Arg | |
| XM_005248338.2:c.1280C>G | XP_005248395.1:p.Pro427Arg | |
| XM_011514077.1:c.1438-387C>G | XP_011512379.1:n.1438-387C>G | |
| XM_005248337.3:c.1472C>G | XP_005248394.1:p.Pro491Arg | |
| XM_005248338.3:c.1280C>G | XP_005248395.1:p.Pro427Arg | |
| XM_017009748.2:c.1250C>G | XP_016865237.1:p.Pro417Arg | |
| NM_031900.4:c.1475C>G MANE Select | NP_114106.1:p.Pro492Arg | |
| NM_001306173.2:c.1250C>G | NP_001293102.1:p.Pro417Arg |