Linked Data
ClinVar Variation Id:
208180
ClinVar RCV Id:
RCV000190376
dbSNP Id:
rs796064502
gnomAD v4:
12-102894845-G-T
ERepo:
CA275937/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894845G>T , CM000674.2:g.102894845G>T | GRCh38 |
| NC_000012.11:g.103288623G>T , CM000674.1:g.103288623G>T | GRCh37 |
| NC_000012.10:g.101812753G>T | NCBI36 |
| NG_008690.1:g.27758C>A | |
| NG_008690.2:g.68566C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.242C>A MANE Select | ENSP00000448059.1:p.Thr81Asn | |
| ENST00000307000.7:c.227C>A | ENSP00000303500.2:p.Thr76Asn | |
| ENST00000546844.1:c.242C>A | ENSP00000446658.1:p.Thr81Asn | |
| ENST00000548677.2:n.329C>A | ||
| ENST00000548928.1:n.164C>A | ||
| ENST00000549111.5:n.338C>A | ||
| ENST00000550978.6:c.226C>A | ||
| ENST00000551337.5:c.242C>A | ENSP00000447620.1:p.Thr81Asn | |
| ENST00000551988.5:n.331C>A | ||
| ENST00000553106.5:c.242C>A | ENSP00000448059.1:p.Thr81Asn | |
| NM_000277.1:c.242C>A | NP_000268.1:p.Thr81Asn | |
| XM_011538422.1:c.242C>A | XP_011536724.1:p.Thr81Asn | |
| NM_000277.2:c.242C>A | NP_000268.1:p.Thr81Asn | |
| NM_001354304.1:c.242C>A | NP_001341233.1:p.Thr81Asn | |
| XM_017019370.2:c.242C>A | XP_016874859.1:p.Thr81Asn | |
| NM_000277.3:c.242C>A MANE Select | NP_000268.1:p.Thr81Asn | |
| NM_001354304.2:c.242C>A | NP_001341233.1:p.Thr81Asn |