Linked Data
ClinVar Variation Id:
208704
dbSNP Id:
rs797044897
PubMed:
PMID:2842249
PMID:8496742
PMID:11020638
PMID:15260953
PMID:16632466
PMID:19652145
PMID:22534615
PMID:22842232
PMID:22850527
PMID:22924536
PMID:22933743
PMID:23483595
PMID:24123283
PMID:24436111
PMID:24468074
PMID:24739246
PMID:24996492
PMID:25359261
PMID:25656163
PMID:25895915
PMID:25996915
PMID:26297560
PMID:26400718
PMID:26410222
PMID:26795593
PMID:27091223
PMID:28293679
PMID:29184165
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41984940T>C , CM000681.2:g.41984940T>C | GRCh38 |
| NC_000019.9:g.42489092T>C , CM000681.1:g.42489092T>C | GRCh37 |
| NC_000019.8:g.47180932T>C | NCBI36 |
| NG_008015.1:g.14291A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545399.6:c.1010A>G | ENSP00000444688.1:p.Glu337Gly | |
| ENST00000644613.1:c.971A>G | ENSP00000494711.1:p.Glu324Gly | |
| ENST00000648268.1:c.971A>G MANE Select | ENSP00000498113.1:p.Glu324Gly | |
| ENST00000302102.9:c.971A>G | ENSP00000302397.5:p.Glu324Gly | |
| ENST00000441343.5:c.971A>G | ENSP00000411503.1:p.Glu324Gly | |
| ENST00000485672.2:n.284A>G | ||
| ENST00000543770.5:c.1004A>G | ENSP00000437577.1:p.Glu335Gly | |
| ENST00000545399.5:c.1010A>G | ENSP00000444688.1:p.Glu337Gly | |
| ENST00000602133.5:c.881A>G | ENSP00000471581.1:p.Glu294Gly | |
| NM_001256213.1:c.1004A>G | NP_001243142.1:p.Glu335Gly | |
| NM_001256214.1:c.1010A>G | NP_001243143.1:p.Glu337Gly | |
| NM_152296.4:c.971A>G | NP_689509.1:p.Glu324Gly | |
| XM_011526991.1:c.881A>G | XP_011525293.1:p.Glu294Gly | |
| NM_152296.5:c.971A>G MANE Select | NP_689509.1:p.Glu324Gly | |
| NM_001256214.2:c.1010A>G | NP_001243143.1:p.Glu337Gly | |
| NM_001256213.2:c.1004A>G | NP_001243142.1:p.Glu335Gly |