Linked Data
ClinVar Variation Id:
950686
ClinVar RCV Id:
RCV001222447
dbSNP Id:
rs777841793
ExAC:
11:68703729 A / C
gnomAD v2:
11-68703729-A-C
gnomAD v4:
11-68936261-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936261A>C , CM000673.2:g.68936261A>C | GRCh38 |
| NC_000011.9:g.68703729A>C , CM000673.1:g.68703729A>C | GRCh37 |
| NC_000011.8:g.68460305A>C | NCBI36 |
| NG_007976.1:g.37411A>C , LRG_250:g.37411A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1781A>C MANE Select | ENSP00000255078.4:p.Asp594Ala | |
| ENST00000674675.1:c.25A>C | ||
| ENST00000674878.1:c.25A>C | ||
| ENST00000674955.1:c.*498A>C | ENSP00000502463.1:n.*498A>C | |
| ENST00000675118.1:c.1269A>C | ||
| ENST00000675389.1:n.56A>C | ||
| ENST00000675615.1:c.1781A>C | ENSP00000502413.1:p.Asp594Ala | |
| ENST00000675648.1:n.1156A>C | ||
| ENST00000675916.1:c.25A>C | ||
| ENST00000676173.1:n.2526A>C | ||
| ENST00000676182.1:c.212A>C | ||
| ENST00000676228.1:c.*1104A>C | ENSP00000502375.1:n.*1104A>C | |
| ENST00000255078.7:c.1781A>C | ENSP00000255078.3:p.Asp594Ala | |
| ENST00000539064.5:n.1540A>C | ||
| ENST00000541229.5:n.476A>C | ||
| ENST00000543739.5:n.774A>C | ||
| ENST00000545475.1:n.377A>C | ||
| NM_002180.2:c.1781A>C , LRG_250t1:c.1781A>C | NP_002171.2:p.Asp594Ala | |
| XM_005273974.2:c.770A>C | XP_005274031.1:p.Asp257Ala | |
| XM_005273975.2:c.653A>C | XP_005274032.1:p.Asp218Ala | |
| XM_011544994.1:c.548A>C | XP_011543296.1:p.Asp183Ala | |
| XR_949903.1:n.1883A>C | ||
| XM_005273975.3:c.653A>C | XP_005274032.1:p.Asp218Ala | |
| XM_017017669.2:c.770A>C | XP_016873158.1:p.Asp257Ala | |
| XM_017017670.2:c.770A>C | XP_016873159.1:p.Asp257Ala | |
| XR_949903.3:n.1879A>C | ||
| NM_002180.3:c.1781A>C MANE Select | NP_002171.2:p.Asp594Ala |