Linked Data
ClinVar Variation Id:
991626
ClinVar RCV Id:
RCV001279869
dbSNP Id:
rs369454152
ExAC:
12:103310840 G / A
gnomAD v2:
12-103310840-G-A
gnomAD v3:
12-102917062-G-A
gnomAD v4:
12-102917062-G-A
ERepo:
CA6749059/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917062G>A , CM000674.2:g.102917062G>A | GRCh38 |
| NC_000012.11:g.103310840G>A , CM000674.1:g.103310840G>A | GRCh37 |
| NC_000012.10:g.101834970G>A | NCBI36 |
| NG_008690.1:g.5541C>T | |
| NG_008690.2:g.46349C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.60+9C>T MANE Select | ENSP00000448059.1:n.60+9C>T | |
| ENST00000307000.7:c.-88+9C>T | ENSP00000303500.2:n.-88+9C>T | |
| ENST00000546844.1:c.60+9C>T | ENSP00000446658.1:n.60+9C>T | |
| ENST00000547319.1:n.371+9C>T | ||
| ENST00000549111.5:n.156+9C>T | ||
| ENST00000550978.6:c.44+9C>T | ||
| ENST00000551337.5:c.60+9C>T | ENSP00000447620.1:n.60+9C>T | |
| ENST00000551988.5:n.149+9C>T | ||
| ENST00000553106.5:c.60+9C>T | ENSP00000448059.1:n.60+9C>T | |
| ENST00000635500.1:n.29-4164C>T | ||
| NM_000277.1:c.60+9C>T | NP_000268.1:n.60+9C>T | |
| XM_011538422.1:c.60+9C>T | XP_011536724.1:n.60+9C>T | |
| NM_000277.2:c.60+9C>T | NP_000268.1:n.60+9C>T | |
| NM_001354304.1:c.60+9C>T | NP_001341233.1:n.60+9C>T | |
| XM_017019370.2:c.60+9C>T | XP_016874859.1:n.60+9C>T | |
| NM_000277.3:c.60+9C>T MANE Select | NP_000268.1:n.60+9C>T | |
| NM_001354304.2:c.60+9C>T | NP_001341233.1:n.60+9C>T |