Linked Data
ClinVar Variation Id:
1339354
ClinVar RCV Id:
RCV001823950
dbSNP Id:
rs2151599700
COSMIC:
COSM1479240
MutSpliceDB:
CA398242403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12141146G>C , CM000679.2:g.12141146G>C | GRCh38 |
| NC_000017.10:g.12044463G>C , CM000679.1:g.12044463G>C | GRCh37 |
| NC_000017.9:g.11985188G>C | NCBI36 |
| NG_033952.1:g.125329G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353533.10:c.1087-1G>C MANE Select | ENSP00000262445.5:n.1087-1G>C | |
| ENST00000353533.9:c.1087-1G>C | ENSP00000262445.5:n.1087-1G>C | |
| ENST00000415385.7:c.1120-1G>C | ENSP00000410402.3:n.1120-1G>C | |
| ENST00000536413.2:n.1269-1G>C | ||
| ENST00000538465.7:c.451-1G>C | ||
| ENST00000602305.5:c.*671-1G>C | ENSP00000473606.1:n.*671-1G>C | |
| ENST00000602375.5:c.*633-1G>C | ENSP00000473472.1:n.*633-1G>C | |
| ENST00000602537.5:c.835-1G>C | ENSP00000473511.1:n.835-1G>C | |
| ENST00000602686.5:c.864-1G>C | ENSP00000473458.1:n.864-1G>C | |
| ENST00000602811.5:c.*858-1G>C | ENSP00000473582.1:n.*858-1G>C | |
| NM_001281435.1:c.1120-1G>C | NP_001268364.1:n.1120-1G>C | |
| NM_003010.3:c.1087-1G>C | NP_003001.1:n.1087-1G>C | |
| XM_005256753.1:c.733-1G>C | XP_005256810.1:n.733-1G>C | |
| XM_005256755.1:c.649-1G>C | XP_005256812.1:n.649-1G>C | |
| XM_011523977.1:c.649-1G>C | XP_011522279.1:n.649-1G>C | |
| XM_005256753.3:c.733-1G>C | XP_005256810.1:n.733-1G>C | |
| XM_005256755.2:c.649-1G>C | XP_005256812.1:n.649-1G>C | |
| XM_011523977.2:c.649-1G>C | XP_011522279.1:n.649-1G>C | |
| XR_001752584.2:n.1231-1G>C | ||
| XR_934080.2:n.1264-1G>C | ||
| NM_003010.4:c.1087-1G>C MANE Select | NP_003001.1:n.1087-1G>C | |
| NM_001281435.2:c.1120-1G>C | NP_001268364.1:n.1120-1G>C |