Linked Data
ClinVar Variation Id:
100787
dbSNP Id:
rs587777167
ExAC:
1:220364621 G / A
gnomAD v2:
1-220364621-G-A
gnomAD v3:
1-220191279-G-A
gnomAD v4:
1-220191279-G-A
PubMed:
PMID:23420520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220191279G>A , CM000663.2:g.220191279G>A | GRCh38 |
| NC_000001.10:g.220364621G>A , CM000663.1:g.220364621G>A | GRCh37 |
| NC_000001.9:g.218431244G>A | NCBI36 |
| NG_015837.1:g.86223C>T | |
| NG_015837.2:g.86223C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685286.1:c.1276C>T | ENSP00000509457.1:p.Arg426Cys | |
| ENST00000685664.1:c.1276C>T | ENSP00000509121.1:p.Arg426Cys | |
| ENST00000686381.1:c.1012C>T | ENSP00000509555.1:p.Arg338Cys | |
| ENST00000687065.1:c.1012C>T | ENSP00000510408.1:p.Arg338Cys | |
| ENST00000687394.1:n.1382C>T | ||
| ENST00000687647.1:c.1012C>T | ENSP00000509205.1:p.Arg338Cys | |
| ENST00000688035.1:n.1691C>T | ||
| ENST00000690315.1:c.1177C>T | ENSP00000509834.1:p.Arg393Cys | |
| ENST00000690373.1:n.1615C>T | ||
| ENST00000690379.1:n.1306C>T | ||
| ENST00000690824.1:c.1276C>T | ENSP00000510709.1:p.Arg426Cys | |
| ENST00000691661.1:c.1288C>T | ENSP00000510185.1:p.Arg430Cys | |
| ENST00000691862.1:c.1174C>T | ENSP00000509291.1:p.Arg392Cys | |
| ENST00000692813.1:c.1276C>T | ENSP00000509080.1:p.Arg426Cys | |
| ENST00000692972.1:c.1351C>T | ENSP00000510753.1:p.Arg451Cys | |
| ENST00000693454.1:n.486C>T | ||
| ENST00000693602.1:n.1369C>T | ||
| ENST00000358951.7:c.1276C>T MANE Select | ENSP00000351832.2:p.Arg426Cys | |
| ENST00000358951.6:c.1276C>T | ENSP00000351832.2:p.Arg426Cys | |
| ENST00000478976.1:n.292-854C>T | ||
| NM_012414.3:c.1276C>T | NP_036546.2:p.Arg426Cys | |
| NM_012414.4:c.1276C>T MANE Select | NP_036546.2:p.Arg426Cys |