Linked Data
ClinVar Variation Id:
723771
ClinVar RCV Id:
RCV001446598
dbSNP Id:
rs1594455341
gnomAD v3:
11-68936231-T-C
gnomAD v4:
11-68936231-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936231T>C , CM000673.2:g.68936231T>C | GRCh38 |
| NC_000011.9:g.68703699T>C , CM000673.1:g.68703699T>C | GRCh37 |
| NC_000011.8:g.68460275T>C | NCBI36 |
| NG_007976.1:g.37381T>C , LRG_250:g.37381T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1757-6T>C MANE Select | ENSP00000255078.4:n.1757-6T>C | |
| ENST00000674955.1:c.*474-6T>C | ENSP00000502463.1:n.*474-6T>C | |
| ENST00000675118.1:c.1245-6T>C | ||
| ENST00000675389.1:n.32-6T>C | ||
| ENST00000675615.1:c.1757-6T>C | ENSP00000502413.1:n.1757-6T>C | |
| ENST00000675648.1:n.1132-6T>C | ||
| ENST00000676173.1:n.2502-6T>C | ||
| ENST00000676182.1:c.188-6T>C | ||
| ENST00000676228.1:c.*1080-6T>C | ENSP00000502375.1:n.*1080-6T>C | |
| ENST00000255078.7:c.1757-6T>C | ENSP00000255078.3:n.1757-6T>C | |
| ENST00000539064.5:n.1516-6T>C | ||
| ENST00000541229.5:n.452-6T>C | ||
| ENST00000543739.5:n.750-6T>C | ||
| ENST00000545475.1:n.353-6T>C | ||
| NM_002180.2:c.1757-6T>C , LRG_250t1:c.1757-6T>C | NP_002171.2:n.1757-6T>C | |
| XM_005273974.2:c.746-6T>C | XP_005274031.1:n.746-6T>C | |
| XM_005273975.2:c.629-6T>C | XP_005274032.1:n.629-6T>C | |
| XM_011544994.1:c.524-6T>C | XP_011543296.1:n.524-6T>C | |
| XR_949903.1:n.1859-6T>C | ||
| XM_005273975.3:c.629-6T>C | XP_005274032.1:n.629-6T>C | |
| XM_017017669.2:c.746-6T>C | XP_016873158.1:n.746-6T>C | |
| XM_017017670.2:c.746-6T>C | XP_016873159.1:n.746-6T>C | |
| XR_949903.3:n.1855-6T>C | ||
| NM_002180.3:c.1757-6T>C MANE Select | NP_002171.2:n.1757-6T>C |