Linked Data
ClinVar Variation Id:
350788
ClinVar RCV Id:
RCV000261445
dbSNP Id:
rs886059902
gnomAD v2:
5-127714502-G-A
gnomAD v3:
5-128378809-G-A
gnomAD v4:
5-128378809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128378809G>A , CM000667.2:g.128378809G>A | GRCh38 |
| NC_000005.9:g.127714502G>A , CM000667.1:g.127714502G>A | GRCh37 |
| NC_000005.8:g.127742401G>A | NCBI36 |
| NG_008750.1:g.164234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.1685C>T MANE Select | ENSP00000262464.4:p.Ala562Val | |
| ENST00000262464.8:c.1685C>T | ENSP00000262464.4:p.Ala562Val | |
| ENST00000508053.5:c.1685C>T | ENSP00000424571.1:p.Ala562Val | |
| ENST00000508989.5:c.1586C>T | ENSP00000425596.1:p.Ala529Val | |
| ENST00000619499.4:c.1682C>T | ENSP00000482132.1:p.Ala561Val | |
| NM_001999.3:c.1685C>T | NP_001990.2:p.Ala562Val | |
| XM_017009228.2:c.1532C>T | XP_016864717.1:p.Ala511Val | |
| NM_001999.4:c.1685C>T MANE Select | NP_001990.2:p.Ala562Val |