Linked Data
ClinVar Variation Id:
239093
ClinVar RCV Id:
RCV000231574
dbSNP Id:
rs201634501
ExAC:
5:127599185 G / A
gnomAD v2:
5-127599185-G-A
gnomAD v3:
5-128263493-G-A
gnomAD v4:
5-128263493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128263493G>A , CM000667.2:g.128263493G>A | GRCh38 |
| NC_000005.9:g.127599185G>A , CM000667.1:g.127599185G>A | GRCh37 |
| NC_000005.8:g.127627084G>A | NCBI36 |
| NG_008750.1:g.279551C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703782.1:n.239C>T | ||
| ENST00000262464.9:c.8124C>T MANE Select | ENSP00000262464.4:p.Tyr2708= | |
| ENST00000262464.8:c.8124C>T | ENSP00000262464.4:p.Tyr2708= | |
| ENST00000508053.5:c.8124C>T | ENSP00000424571.1:p.Tyr2708= | |
| ENST00000619499.4:c.8121C>T | ENSP00000482132.1:p.Tyr2707= | |
| NM_001999.3:c.8124C>T | NP_001990.2:p.Tyr2708= | |
| XM_017009228.2:c.7971C>T | XP_016864717.1:p.Tyr2657= | |
| NM_001999.4:c.8124C>T MANE Select | NP_001990.2:p.Tyr2708= |