Linked Data
ClinVar Variation Id:
102744
dbSNP Id:
rs199475585
gnomAD v4:
12-102917073-G-A
PubMed:
PMID:9284280
PMID:9391881
PMID:9634518
PMID:16879198
PMID:22841515
PMID:23357515
PMID:23430547
PMID:23764561
ERepo:
CA229635/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917073G>A , CM000674.2:g.102917073G>A | GRCh38 |
| NC_000012.11:g.103310851G>A , CM000674.1:g.103310851G>A | GRCh37 |
| NC_000012.10:g.101834981G>A | NCBI36 |
| NG_008690.1:g.5530C>T | |
| NG_008690.2:g.46338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.58C>T MANE Select | ENSP00000448059.1:p.Gln20Ter | |
| ENST00000307000.7:c.-90C>T | ENSP00000303500.2:n.-90C>T | |
| ENST00000546844.1:c.58C>T | ENSP00000446658.1:p.Gln20Ter | |
| ENST00000547319.1:n.369C>T | ||
| ENST00000549111.5:n.154C>T | ||
| ENST00000550978.6:c.42C>T | ||
| ENST00000551337.5:c.58C>T | ENSP00000447620.1:p.Gln20Ter | |
| ENST00000551988.5:n.147C>T | ||
| ENST00000553106.5:c.58C>T | ENSP00000448059.1:p.Gln20Ter | |
| ENST00000635500.1:n.29-4175C>T | ||
| NM_000277.1:c.58C>T | NP_000268.1:p.Gln20Ter | |
| XM_011538422.1:c.58C>T | XP_011536724.1:p.Gln20Ter | |
| NM_000277.2:c.58C>T | NP_000268.1:p.Gln20Ter | |
| NM_001354304.1:c.58C>T | NP_001341233.1:p.Gln20Ter | |
| XM_017019370.2:c.58C>T | XP_016874859.1:p.Gln20Ter | |
| NM_000277.3:c.58C>T MANE Select | NP_000268.1:p.Gln20Ter | |
| NM_001354304.2:c.58C>T | NP_001341233.1:p.Gln20Ter |