Linked Data
ClinVar Variation Id:
4968
dbSNP Id:
rs137852988
ExAC:
2:44102516 G / A
gnomAD v2:
2-44102516-G-A
gnomAD v3:
2-43875377-G-A
gnomAD v4:
2-43875377-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875377G>A , CM000664.2:g.43875377G>A | GRCh38 |
| NC_000002.11:g.44102516G>A , CM000664.1:g.44102516G>A | GRCh37 |
| NC_000002.10:g.43956020G>A | NCBI36 |
| NG_008884.1:g.41414G>A | |
| NG_008884.2:g.48436G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272286.4:c.1720G>A MANE Select | ENSP00000272286.2:p.Gly574Arg | |
| ENST00000272286.2:c.1720G>A | ENSP00000272286.2:p.Gly574Arg | |
| NM_022437.2:c.1720G>A | NP_071882.1:p.Gly574Arg | |
| XM_005264483.2:c.1717G>A | XP_005264540.1:p.Gly573Arg | |
| XM_011533029.1:c.1732G>A | XP_011531331.1:p.Gly578Arg | |
| XM_011533030.1:c.1729G>A | XP_011531332.1:p.Gly577Arg | |
| XM_011533031.1:c.1504G>A | XP_011531333.1:p.Gly502Arg | |
| XR_939707.1:n.2222G>A | ||
| NM_001357321.1:c.1717G>A | NP_001344250.1:p.Gly573Arg | |
| XM_011533029.2:c.1732G>A | XP_011531331.1:p.Gly578Arg | |
| XM_011533030.2:c.1729G>A | XP_011531332.1:p.Gly577Arg | |
| XR_001738891.1:n.2236G>A | ||
| XR_939707.2:n.2236G>A | ||
| NM_022437.3:c.1720G>A MANE Select | NP_071882.1:p.Gly574Arg | |
| NM_001357321.2:c.1717G>A | NP_001344250.1:p.Gly573Arg |