Linked Data
ClinVar Variation Id:
2997490
ClinVar RCV Id:
RCV003851609
dbSNP Id:
rs1333676647
gnomAD v2:
14-91745669-G-A
gnomAD v4:
14-91279325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91279325G>A , CM000676.2:g.91279325G>A | GRCh38 |
| NC_000014.8:g.91745669G>A , CM000676.1:g.91745669G>A | GRCh37 |
| NC_000014.7:g.90815422G>A | NCBI36 |
| NG_033118.1:g.143520C>T | |
| NG_033118.2:g.143520C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.4700-19C>T MANE Select | ENSP00000374507.6:n.4700-19C>T | |
| ENST00000331194.8:c.272-19C>T | ENSP00000330332.8:n.272-19C>T | |
| ENST00000334448.5:n.512-19C>T | ||
| ENST00000389857.10:c.4700-19C>T | ENSP00000374507.6:n.4700-19C>T | |
| ENST00000556726.5:c.928-19C>T | ||
| ENST00000557455.1:n.653C>T | ||
| NM_001080414.3:c.4700-19C>T | NP_001073883.2:n.4700-19C>T | |
| XM_011536796.1:c.4592-19C>T | XP_011535098.1:n.4592-19C>T | |
| XR_429316.2:n.4975-19C>T | ||
| XM_011536796.2:c.4592-19C>T | XP_011535098.1:n.4592-19C>T | |
| XM_017021336.1:c.1781-19C>T | XP_016876825.1:n.1781-19C>T | |
| XR_429316.4:n.4973-19C>T | ||
| NM_001080414.4:c.4700-19C>T MANE Select | NP_001073883.2:n.4700-19C>T |