Linked Data
ClinVar Variation Id:
2128152
ClinVar RCV Id:
RCV003036194
gnomAD v4:
8-96144920-G-T
MyVariant Identifiers:
chr8:g.97157148G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144920G>T , CM000670.2:g.96144920G>T | GRCh38 |
| NC_000008.10:g.97157148G>T , CM000670.1:g.97157148G>T | GRCh37 |
| NC_000008.9:g.97226324G>T | NCBI36 |
| NG_008981.1:g.20873C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.1011C>A MANE Select | ENSP00000287020.4:p.Ala337= | |
| ENST00000287020.6:c.1011C>A | ENSP00000287020.4:p.Ala337= | |
| ENST00000620978.1:c.793+156C>A | ENSP00000480170.1:n.793+156C>A | |
| ENST00000621429.1:c.875-115C>A | ENSP00000483711.1:n.875-115C>A | |
| NM_001001557.2:c.1011C>A | NP_001001557.1:p.Ala337= | |
| XM_011517030.1:c.612C>A | XP_011515332.1:p.Ala204= | |
| NM_001001557.3:c.1011C>A | NP_001001557.1:p.Ala337= | |
| NM_001001557.4:c.1011C>A MANE Select | NP_001001557.1:p.Ala337= |