Linked Data
ClinVar Variation Id:
2155010
ClinVar RCV Id:
RCV003083770
dbSNP Id:
rs763934108
ExAC:
12:124228735 C / CT
gnomAD v2:
12-124228735-C-CT
gnomAD v4:
12-123744188-C-CT
MyVariant Identifiers:
chr12:g.124228735_124228736insT (hg19)
chr12:g.123744188_123744189insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744194dup , CM000674.2:g.123744194dup | GRCh38 |
| NC_000012.11:g.124228741dup , CM000674.1:g.124228741dup | GRCh37 |
| NC_000012.10:g.122794694dup | NCBI36 |
| NG_012743.1:g.36877dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1190-7dup MANE Select | ENSP00000332247.2:n.1190-7dup | |
| ENST00000540368.6:n.1221-7dup | ||
| ENST00000674794.1:c.1278-7dup | ||
| ENST00000675260.1:n.465-7dup | ||
| ENST00000675344.1:c.*211-7dup | ENSP00000501953.1:n.*211-7dup | |
| ENST00000330342.7:c.1190-7dup | ENSP00000332247.2:n.1190-7dup | |
| ENST00000504192.2:c.800-7dup | ENSP00000443441.1:n.800-7dup | |
| ENST00000536426.1:n.207-7dup | ||
| ENST00000545059.5:n.3826-7dup | ||
| NM_012463.3:c.1190-7dup | NP_036595.2:n.1190-7dup | |
| XM_005253563.1:c.1190-7dup | XP_005253620.1:n.1190-7dup | |
| XM_006719317.2:c.677-7dup | XP_006719380.1:n.677-7dup | |
| XM_006719318.2:c.368-7dup | XP_006719381.1:n.368-7dup | |
| XR_429088.1:n.1353-7dup | ||
| XM_024448910.1:c.1190-7dup | XP_024304678.1:n.1190-7dup | |
| XM_024448911.1:c.677-7dup | XP_024304679.1:n.677-7dup | |
| XM_024448912.1:c.368-7dup | XP_024304680.1:n.368-7dup | |
| NM_012463.4:c.1190-7dup MANE Select | NP_036595.2:n.1190-7dup |