Linked Data
ClinVar Variation Id:
471818
ClinVar RCV Id:
RCV001155485
RCV001155487
RCV002377133
RCV002530096
RCV001155486
RCV003992323
RCV001821573
dbSNP Id:
rs190411812
ExAC:
5:1293732 G / A
gnomAD v2:
5-1293732-G-A
gnomAD v3:
5-1293617-G-A
gnomAD v4:
5-1293617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1293617G>A , CM000667.2:g.1293617G>A | GRCh38 |
| NC_000005.9:g.1293732G>A , CM000667.1:g.1293732G>A | GRCh37 |
| NC_000005.8:g.1346732G>A | NCBI36 |
| NG_009265.1:g.6431C>T , LRG_343:g.6431C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1269C>T MANE Select | ENSP00000309572.5:p.Ala423= | |
| ENST00000656021.1:c.1269C>T | ENSP00000499759.1:p.Ala423= | |
| ENST00000310581.9:c.1269C>T | ENSP00000309572.5:p.Ala423= | |
| ENST00000334602.10:c.1269C>T | ENSP00000334346.6:p.Ala423= | |
| ENST00000460137.6:c.1269C>T | ENSP00000425003.1:p.Ala423= | |
| ENST00000508104.2:c.1269C>T | ENSP00000426042.2:p.Ala423= | |
| NM_001193376.1:c.1269C>T | NP_001180305.1:p.Ala423= | |
| NM_198253.2:c.1269C>T , LRG_343t1:c.1269C>T | NP_937983.2:p.Ala423= | |
| NR_149162.1:n.1327C>T | ||
| NR_149163.1:n.1327C>T | ||
| NM_001193376.2:c.1269C>T | NP_001180305.1:p.Ala423= | |
| NM_198253.3:c.1269C>T MANE Select | NP_937983.2:p.Ala423= | |
| NR_149162.2:n.1348C>T | ||
| NR_149163.2:n.1348C>T | ||
| NM_001193376.3:c.1269C>T | NP_001180305.1:p.Ala423= | |
| NR_149162.3:n.1348C>T | ||
| NR_149163.3:n.1348C>T |