Linked Data
dbSNP Id:
rs1194696573
gnomAD v2:
1-24175203-C-T
gnomAD v3:
1-23848713-C-T
gnomAD v4:
1-23848713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848713C>T , CM000663.2:g.23848713C>T | GRCh38 |
| NC_000001.10:g.24175203C>T , CM000663.1:g.24175203C>T | GRCh37 |
| NC_000001.9:g.24047790C>T | NCBI36 |
| NG_013346.1:g.24657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1096G>A MANE Select | ENSP00000363603.3:p.Gly366Arg | |
| ENST00000374479.3:c.1096G>A | ENSP00000363603.3:p.Gly366Arg | |
| NM_000147.4:c.1096G>A | NP_000138.2:p.Gly366Arg | |
| XM_005245821.1:c.721G>A | XP_005245878.1:p.Gly241Arg | |
| XM_011541167.1:c.463G>A | XP_011539469.1:p.Gly155Arg | |
| XM_005245821.3:c.721G>A | XP_005245878.1:p.Gly241Arg | |
| XM_011541167.3:c.463G>A | XP_011539469.1:p.Gly155Arg | |
| XM_017000905.2:c.793G>A | XP_016856394.1:p.Gly265Arg | |
| NM_000147.5:c.1096G>A MANE Select | NP_000138.2:p.Gly366Arg | |
| NR_174379.1:n.1274G>A | ||
| NR_174380.1:n.1323G>A | ||
| NR_174381.1:n.1162G>A | ||
| NR_174382.1:n.1559G>A |