Linked Data
ClinVar Variation Id:
458729
dbSNP Id:
rs762615993
ExAC:
5:127730955 C / T
gnomAD v2:
5-127730955-C-T
gnomAD v3:
5-128395262-C-T
gnomAD v4:
5-128395262-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128395262C>T , CM000667.2:g.128395262C>T | GRCh38 |
| NC_000005.9:g.127730955C>T , CM000667.1:g.127730955C>T | GRCh37 |
| NC_000005.8:g.127758854C>T | NCBI36 |
| NG_008750.1:g.147781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703787.1:n.798G>A | ||
| ENST00000262464.9:c.1091G>A MANE Select | ENSP00000262464.4:p.Gly364Asp | |
| ENST00000262464.8:c.1091G>A | ENSP00000262464.4:p.Gly364Asp | |
| ENST00000508053.5:c.1091G>A | ENSP00000424571.1:p.Gly364Asp | |
| ENST00000508989.5:c.992G>A | ENSP00000425596.1:p.Gly331Asp | |
| ENST00000619499.4:c.1088G>A | ENSP00000482132.1:p.Gly363Asp | |
| NM_001999.3:c.1091G>A | NP_001990.2:p.Gly364Asp | |
| XM_017009228.2:c.1079-1894G>A | XP_016864717.1:n.1079-1894G>A | |
| NM_001999.4:c.1091G>A MANE Select | NP_001990.2:p.Gly364Asp |