Linked Data
dbSNP Id:
rs757749901
ExAC:
1:169511141 T / C
gnomAD v2:
1-169511141-T-C
gnomAD v4:
1-169541903-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541903T>C , CM000663.2:g.169541903T>C | GRCh38 |
| NC_000001.10:g.169511141T>C , CM000663.1:g.169511141T>C | GRCh37 |
| NC_000001.9:g.167777765T>C | NCBI36 |
| NG_011806.1:g.49629A>G , LRG_553:g.49629A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.3187A>G MANE Select | ENSP00000356771.3:p.Arg1063Gly | |
| ENST00000367796.3:c.3202A>G | ENSP00000356770.3:p.Arg1068Gly | |
| ENST00000367797.7:c.3187A>G | ENSP00000356771.3:p.Arg1063Gly | |
| NM_000130.4:c.3187A>G , LRG_553t1:c.3187A>G | NP_000121.2:p.Arg1063Gly | |
| XM_017000660.2:c.2776A>G | XP_016856149.1:p.Arg926Gly | |
| NM_000130.5:c.3187A>G MANE Select | NP_000121.2:p.Arg1063Gly |