Linked Data
ClinVar Variation Id:
14350
dbSNP Id:
rs1800450
ExAC:
10:54531235 C / T
gnomAD v2:
10-54531235-C-T
gnomAD v3:
10-52771475-C-T
gnomAD v4:
10-52771475-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52771475C>T , CM000672.2:g.52771475C>T | GRCh38 |
| NC_000010.10:g.54531235C>T , CM000672.1:g.54531235C>T | GRCh37 |
| NC_000010.9:g.54201241C>T | NCBI36 |
| NG_008196.1:g.5226G>A , LRG_154:g.5226G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674931.1:c.161G>A MANE Select | ENSP00000502789.1:p.Gly54Asp | |
| ENST00000675947.1:c.161G>A | ENSP00000502615.1:p.Gly54Asp | |
| ENST00000373968.3:c.161G>A | ENSP00000363079.3:p.Gly54Asp | |
| NM_000242.2:c.161G>A , LRG_154t1:c.161G>A | NP_000233.1:p.Gly54Asp | |
| XM_006717861.2:c.161G>A | XP_006717924.1:p.Gly54Asp | |
| XM_011539816.1:c.161G>A | XP_011538118.1:p.Gly54Asp | |
| XM_006717861.4:c.161G>A | XP_006717924.1:p.Gly54Asp | |
| XM_011539816.3:c.161G>A | XP_011538118.1:p.Gly54Asp | |
| NM_000242.3:c.161G>A | NP_000233.1:p.Gly54Asp | |
| NM_001378373.1:c.161G>A MANE Select | NP_001365302.1:p.Gly54Asp | |
| NM_001378374.1:c.161G>A | NP_001365303.1:p.Gly54Asp |