Linked Data
ClinVar Variation Id:
2784309
ClinVar RCV Id:
RCV003660296
dbSNP Id:
rs1450286620
gnomAD v2:
3-148875329-C-T
gnomAD v3:
3-149157542-C-T
gnomAD v4:
3-149157542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149157542C>T , CM000665.2:g.149157542C>T | GRCh38 |
| NC_000003.11:g.148875329C>T , CM000665.1:g.148875329C>T | GRCh37 |
| NC_000003.10:g.150358019C>T | NCBI36 |
| NG_009847.1:g.32959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296051.7:c.1691+11C>T MANE Select | ENSP00000296051.2:n.1691+11C>T | |
| ENST00000296051.6:c.1691+11C>T | ENSP00000296051.2:n.1691+11C>T | |
| ENST00000460120.5:c.1196+11C>T | ENSP00000418230.1:n.1196+11C>T | |
| NM_001308258.1:c.1196+11C>T | NP_001295187.1:n.1196+11C>T | |
| NM_032383.3:c.1691+11C>T | NP_115759.2:n.1691+11C>T | |
| NM_032383.4:c.1691+11C>T | NP_115759.2:n.1691+11C>T | |
| XM_005247834.3:c.1691+11C>T | XP_005247891.1:n.1691+11C>T | |
| XM_006713788.1:c.1691+11C>T | XP_006713851.1:n.1691+11C>T | |
| XR_924201.1:n.1806+11C>T | ||
| XM_005247834.4:c.1691+11C>T | XP_005247891.1:n.1691+11C>T | |
| XM_017007323.2:c.1691+11C>T | XP_016862812.1:n.1691+11C>T | |
| XR_001740326.2:n.1791+11C>T | ||
| XR_001740327.2:n.1791+11C>T | ||
| XR_001740328.2:n.1791+11C>T | ||
| XR_924201.3:n.1791+11C>T | ||
| NM_001308258.2:c.1196+11C>T | NP_001295187.1:n.1196+11C>T | |
| NM_032383.5:c.1691+11C>T MANE Select | NP_115759.2:n.1691+11C>T |