Linked Data
dbSNP Id:
rs748286386
ExAC:
2:44102360 A / G
gnomAD v2:
2-44102360-A-G
gnomAD v4:
2-43875221-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875221A>G , CM000664.2:g.43875221A>G | GRCh38 |
| NC_000002.11:g.44102360A>G , CM000664.1:g.44102360A>G | GRCh37 |
| NC_000002.10:g.43955864A>G | NCBI36 |
| NG_008884.1:g.41258A>G | |
| NG_008884.2:g.48280A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1564A>G MANE Select | ENSP00000272286.2:p.Arg522Gly | |
| ENST00000272286.2:c.1564A>G | ENSP00000272286.2:p.Arg522Gly | |
| NM_022437.2:c.1564A>G | NP_071882.1:p.Arg522Gly | |
| XM_005264483.2:c.1561A>G | XP_005264540.1:p.Arg521Gly | |
| XM_011533029.1:c.1576A>G | XP_011531331.1:p.Arg526Gly | |
| XM_011533030.1:c.1573A>G | XP_011531332.1:p.Arg525Gly | |
| XM_011533031.1:c.1348A>G | XP_011531333.1:p.Arg450Gly | |
| XR_939707.1:n.2066A>G | ||
| NM_001357321.1:c.1561A>G | NP_001344250.1:p.Arg521Gly | |
| XM_011533029.2:c.1576A>G | XP_011531331.1:p.Arg526Gly | |
| XM_011533030.2:c.1573A>G | XP_011531332.1:p.Arg525Gly | |
| XR_001738891.1:n.2080A>G | ||
| XR_939707.2:n.2080A>G | ||
| NM_022437.3:c.1564A>G MANE Select | NP_071882.1:p.Arg522Gly | |
| NM_001357321.2:c.1561A>G | NP_001344250.1:p.Arg521Gly |