Linked Data
dbSNP Id:
rs754405055
ExAC:
1:24175178 G / C
gnomAD v2:
1-24175178-G-C
gnomAD v4:
1-23848688-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848688G>C , CM000663.2:g.23848688G>C | GRCh38 |
| NC_000001.10:g.24175178G>C , CM000663.1:g.24175178G>C | GRCh37 |
| NC_000001.9:g.24047765G>C | NCBI36 |
| NG_013346.1:g.24682C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1121C>G MANE Select | ENSP00000363603.3:p.Pro374Arg | |
| ENST00000374479.3:c.1121C>G | ENSP00000363603.3:p.Pro374Arg | |
| NM_000147.4:c.1121C>G | NP_000138.2:p.Pro374Arg | |
| XM_005245821.1:c.746C>G | XP_005245878.1:p.Pro249Arg | |
| XM_011541167.1:c.488C>G | XP_011539469.1:p.Pro163Arg | |
| XM_005245821.3:c.746C>G | XP_005245878.1:p.Pro249Arg | |
| XM_011541167.3:c.488C>G | XP_011539469.1:p.Pro163Arg | |
| XM_017000905.2:c.818C>G | XP_016856394.1:p.Pro273Arg | |
| NM_000147.5:c.1121C>G MANE Select | NP_000138.2:p.Pro374Arg | |
| NR_174379.1:n.1299C>G | ||
| NR_174380.1:n.1348C>G | ||
| NR_174381.1:n.1187C>G | ||
| NR_174382.1:n.1584C>G |