Linked Data
dbSNP Id:
rs767833313
ExAC:
19:47207643 A / G
gnomAD v2:
19-47207643-A-G
gnomAD v4:
19-46704386-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46704386A>G , CM000681.2:g.46704386A>G | GRCh38 |
| NC_000019.9:g.47207643A>G , CM000681.1:g.47207643A>G | GRCh37 |
| NC_000019.8:g.51899483A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291281.9:c.672T>C MANE Select | ENSP00000291281.3:p.Arg224= | |
| ENST00000291281.8:c.672T>C | ENSP00000291281.3:p.Arg224= | |
| ENST00000433867.5:c.672T>C | ENSP00000393978.1:p.Arg224= | |
| ENST00000595515.5:c.672T>C | ENSP00000470804.1:p.Arg224= | |
| ENST00000597641.1:c.407T>C | ENSP00000469064.1:n.407T>C | |
| ENST00000600194.5:c.201T>C | ENSP00000472744.1:p.Arg67= | |
| ENST00000601605.5:c.41-3274T>C | ENSP00000470442.1:n.41-3274T>C | |
| ENST00000601806.5:c.201T>C | ENSP00000469106.1:p.Arg67= | |
| NM_001079880.1:c.672T>C | NP_001073349.1:p.Arg224= | |
| NM_001079881.1:c.672T>C | NP_001073350.1:p.Arg224= | |
| NM_001079882.1:c.201T>C | NP_001073351.1:p.Arg67= | |
| NM_016457.4:c.672T>C | NP_057541.2:p.Arg224= | |
| XM_005258716.2:c.201T>C | XP_005258773.2:p.Arg67= | |
| NM_001079880.2:c.672T>C | NP_001073349.1:p.Arg224= | |
| NM_001079881.2:c.672T>C | NP_001073350.1:p.Arg224= | |
| NM_001079882.2:c.201T>C | NP_001073351.1:p.Arg67= | |
| NM_016457.5:c.672T>C MANE Select | NP_057541.2:p.Arg224= |