Linked Data
dbSNP Id:
rs749275325
ExAC:
13:47409001 C / T
gnomAD v2:
13-47409001-C-T
gnomAD v3:
13-46834866-C-T
gnomAD v4:
13-46834866-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46834866C>T , CM000675.2:g.46834866C>T | GRCh38 |
| NC_000013.10:g.47409001C>T , CM000675.1:g.47409001C>T | GRCh37 |
| NC_000013.9:g.46307002C>T | NCBI36 |
| NG_013011.1:g.67169G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.1387G>A MANE Select | ENSP00000437737.1:p.Gly463Arg | |
| ENST00000543956.5:c.898G>A | ENSP00000441861.2:p.Gly300Arg | |
| ENST00000378688.8:c.1387G>A | ENSP00000367959.3:p.Gly463Arg | |
| ENST00000542664.3:c.1387G>A | ENSP00000437737.1:p.Gly463Arg | |
| ENST00000543956.4:c.1135G>A | ENSP00000441861.1:p.Gly379Arg | |
| NM_000621.4:c.1387G>A | NP_000612.1:p.Gly463Arg | |
| NM_001165947.2:c.1135G>A | NP_001159419.1:p.Gly379Arg | |
| NM_000621.5:c.1387G>A MANE Select | NP_000612.1:p.Gly463Arg | |
| NM_001165947.5:c.898G>A | NP_001159419.2:p.Gly300Arg | |
| NM_001378924.1:c.1387G>A | NP_001365853.1:p.Gly463Arg |