Linked Data
ClinVar Variation Id:
2699550
ClinVar RCV Id:
RCV003596318
dbSNP Id:
rs376941697
gnomAD v4:
6-32842950-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842950G>T , CM000668.2:g.32842950G>T | GRCh38 |
| NC_000006.11:g.32810727G>T , CM000668.1:g.32810727G>T | GRCh37 |
| NC_000006.10:g.32918705G>T | NCBI36 |
| NG_009793.3:g.821C>A | |
| NG_028165.1:g.6986C>A | |
| NG_009793.4:g.821C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.308C>A | ||
| ENST00000697612.1:n.986C>A | ||
| ENST00000374881.3:c.275C>A | ENSP00000364015.2:p.Ser92Tyr | |
| ENST00000374882.8:c.287C>A MANE Select | ENSP00000364016.4:p.Ser96Tyr | |
| ENST00000650411.1:n.1608C>A | ||
| ENST00000650793.1:n.308C>A | ||
| ENST00000374881.2:c.275C>A | ENSP00000364015.2:p.Ser92Tyr | |
| ENST00000374882.7:c.287C>A | ENSP00000364016.3:p.Ser96Tyr | |
| ENST00000395339.7:c.287C>A | ENSP00000378748.3:p.Ser96Tyr | |
| ENST00000484003.1:n.513C>A | ||
| NM_004159.4:c.275C>A | NP_004150.1:p.Ser92Tyr | |
| NM_148919.3:c.287C>A | NP_683720.2:p.Ser96Tyr | |
| NM_148919.4:c.287C>A MANE Select | NP_683720.2:p.Ser96Tyr | |
| NM_004159.5:c.275C>A | NP_004150.1:p.Ser92Tyr |