Linked Data
ClinVar Variation Id:
102655
dbSNP Id:
rs62517195
gnomAD v4:
12-102877556-A-T
ERepo:
CA229521/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877556A>T , CM000674.2:g.102877556A>T | GRCh38 |
| NC_000012.11:g.103271334A>T , CM000674.1:g.103271334A>T | GRCh37 |
| NC_000012.10:g.101795464A>T | NCBI36 |
| NG_008690.1:g.45047T>A | |
| NG_008690.2:g.85855T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.353-6T>A MANE Select | ENSP00000448059.1:n.353-6T>A | |
| ENST00000307000.7:c.338-6T>A | ENSP00000303500.2:n.338-6T>A | |
| ENST00000549111.5:n.449-6T>A | ||
| ENST00000550978.6:c.337-6T>A | ||
| ENST00000551337.5:c.353-6T>A | ENSP00000447620.1:n.353-6T>A | |
| ENST00000551988.5:n.442-6T>A | ||
| ENST00000553106.5:c.353-6T>A | ENSP00000448059.1:n.353-6T>A | |
| NM_000277.1:c.353-6T>A | NP_000268.1:n.353-6T>A | |
| XM_011538422.1:c.353-6T>A | XP_011536724.1:n.353-6T>A | |
| NM_000277.2:c.353-6T>A | NP_000268.1:n.353-6T>A | |
| NM_001354304.1:c.353-6T>A | NP_001341233.1:n.353-6T>A | |
| XM_017019370.2:c.353-6T>A | XP_016874859.1:n.353-6T>A | |
| NM_000277.3:c.353-6T>A MANE Select | NP_000268.1:n.353-6T>A | |
| NM_001354304.2:c.353-6T>A | NP_001341233.1:n.353-6T>A |