Linked Data
ClinVar Variation Id:
100790
ClinVar RCV Id:
RCV000087153
dbSNP Id:
rs587777170
gnomAD v4:
1-220167295-C-A
PubMed:
PMID:23420520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220167295C>A , CM000663.2:g.220167295C>A | GRCh38 |
| NC_000001.10:g.220340637C>A , CM000663.1:g.220340637C>A | GRCh37 |
| NC_000001.9:g.218407260C>A | NCBI36 |
| NG_015837.1:g.110207G>T | |
| NG_015837.2:g.110207G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685286.1:c.*414G>T | ENSP00000509457.1:n.*414G>T | |
| ENST00000685664.1:c.3085G>T | ENSP00000509121.1:p.Glu1029Ter | |
| ENST00000686381.1:c.2821G>T | ENSP00000509555.1:p.Glu941Ter | |
| ENST00000687065.1:c.2821G>T | ENSP00000510408.1:p.Glu941Ter | |
| ENST00000687394.1:n.3191G>T | ||
| ENST00000687647.1:c.2821G>T | ENSP00000509205.1:p.Glu941Ter | |
| ENST00000688035.1:n.3602G>T | ||
| ENST00000690315.1:c.2986G>T | ENSP00000509834.1:p.Glu996Ter | |
| ENST00000690373.1:n.3424G>T | ||
| ENST00000690824.1:c.3085G>T | ENSP00000510709.1:p.Glu1029Ter | |
| ENST00000691661.1:c.3097G>T | ENSP00000510185.1:p.Glu1033Ter | |
| ENST00000691862.1:c.2983G>T | ENSP00000509291.1:p.Glu995Ter | |
| ENST00000692813.1:c.3085G>T | ENSP00000509080.1:p.Glu1029Ter | |
| ENST00000692972.1:c.3160G>T | ENSP00000510753.1:p.Glu1054Ter | |
| ENST00000693602.1:n.3178G>T | ||
| ENST00000358951.7:c.3085G>T MANE Select | ENSP00000351832.2:p.Glu1029Ter | |
| ENST00000358951.6:c.3085G>T | ENSP00000351832.2:p.Glu1029Ter | |
| NM_012414.3:c.3085G>T | NP_036546.2:p.Glu1029Ter | |
| NM_012414.4:c.3085G>T MANE Select | NP_036546.2:p.Glu1029Ter |