Linked Data
ClinVar Variation Id:
350805
ClinVar RCV Id:
RCV000266345
RCV000324023
RCV000357781
RCV000613962
RCV001528455
RCV004544655
RCV002418210
RCV002520305
dbSNP Id:
rs573817924
ExAC:
5:1294879 G / A
gnomAD v2:
5-1294879-G-A
gnomAD v3:
5-1294764-G-A
gnomAD v4:
5-1294764-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1294764G>A , CM000667.2:g.1294764G>A | GRCh38 |
| NC_000005.9:g.1294879G>A , CM000667.1:g.1294879G>A | GRCh37 |
| NC_000005.8:g.1347879G>A | NCBI36 |
| NG_009265.1:g.5284C>T , LRG_343:g.5284C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.219+7C>T MANE Select | ENSP00000309572.5:n.219+7C>T | |
| ENST00000656021.1:c.219+7C>T | ENSP00000499759.1:n.219+7C>T | |
| ENST00000310581.9:c.219+7C>T | ENSP00000309572.5:n.219+7C>T | |
| ENST00000334602.10:c.219+7C>T | ENSP00000334346.6:n.219+7C>T | |
| ENST00000460137.6:c.219+7C>T | ENSP00000425003.1:n.219+7C>T | |
| ENST00000508104.2:c.219+7C>T | ENSP00000426042.2:n.219+7C>T | |
| ENST00000522877.1:n.299+7C>T | ||
| NM_001193376.1:c.219+7C>T | NP_001180305.1:n.219+7C>T | |
| NM_198253.2:c.219+7C>T , LRG_343t1:c.219+7C>T | NP_937983.2:n.219+7C>T | |
| NR_149162.1:n.277+7C>T | ||
| NR_149163.1:n.277+7C>T | ||
| NM_001193376.2:c.219+7C>T | NP_001180305.1:n.219+7C>T | |
| NM_198253.3:c.219+7C>T MANE Select | NP_937983.2:n.219+7C>T | |
| NR_149162.2:n.298+7C>T | ||
| NR_149163.2:n.298+7C>T | ||
| NM_001193376.3:c.219+7C>T | NP_001180305.1:n.219+7C>T | |
| NR_149162.3:n.298+7C>T | ||
| NR_149163.3:n.298+7C>T |