Linked Data
ClinVar Variation Id:
1820
dbSNP Id:
rs121434310
gnomAD v4:
1-220164733-C-A
PubMed:
PMID:16532399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220164733C>A , CM000663.2:g.220164733C>A | GRCh38 |
| NC_000001.10:g.220338075C>A , CM000663.1:g.220338075C>A | GRCh37 |
| NC_000001.9:g.218404698C>A | NCBI36 |
| NG_015837.1:g.112769G>T | |
| NG_015837.2:g.112769G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685286.1:c.*479G>T | ENSP00000509457.1:n.*479G>T | |
| ENST00000685664.1:c.3154G>T | ENSP00000509121.1:p.Gly1052Cys | |
| ENST00000686381.1:c.2890G>T | ENSP00000509555.1:p.Gly964Cys | |
| ENST00000687065.1:c.2890G>T | ENSP00000510408.1:p.Gly964Cys | |
| ENST00000687394.1:n.3260G>T | ||
| ENST00000687647.1:c.2890G>T | ENSP00000509205.1:p.Gly964Cys | |
| ENST00000688035.1:n.6164G>T | ||
| ENST00000690315.1:c.3055G>T | ENSP00000509834.1:p.Gly1019Cys | |
| ENST00000690373.1:n.3493G>T | ||
| ENST00000690824.1:c.3154G>T | ENSP00000510709.1:p.Gly1052Cys | |
| ENST00000691661.1:c.3166G>T | ENSP00000510185.1:p.Gly1056Cys | |
| ENST00000691862.1:c.3052G>T | ENSP00000509291.1:p.Gly1018Cys | |
| ENST00000692813.1:c.3154G>T | ENSP00000509080.1:p.Gly1052Cys | |
| ENST00000692972.1:c.3229G>T | ENSP00000510753.1:p.Gly1077Cys | |
| ENST00000693602.1:n.5740G>T | ||
| ENST00000358951.7:c.3154G>T MANE Select | ENSP00000351832.2:p.Gly1052Cys | |
| ENST00000358951.6:c.3154G>T | ENSP00000351832.2:p.Gly1052Cys | |
| NM_012414.3:c.3154G>T | NP_036546.2:p.Gly1052Cys | |
| NM_012414.4:c.3154G>T MANE Select | NP_036546.2:p.Gly1052Cys |