Linked Data
ClinVar Variation Id:
242217
ClinVar RCV Id:
RCV001155482
RCV001155483
RCV001155484
RCV001310843
RCV001820779
RCV002392724
RCV002519809
RCV003316309
dbSNP Id:
rs186596886
ExAC:
5:1293609 G / A
gnomAD v2:
5-1293609-G-A
gnomAD v3:
5-1293494-G-A
gnomAD v4:
5-1293494-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1293494G>A , CM000667.2:g.1293494G>A | GRCh38 |
| NC_000005.9:g.1293609G>A , CM000667.1:g.1293609G>A | GRCh37 |
| NC_000005.8:g.1346609G>A | NCBI36 |
| NG_009265.1:g.6554C>T , LRG_343:g.6554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1392C>T MANE Select | ENSP00000309572.5:p.Phe464= | |
| ENST00000656021.1:c.1392C>T | ENSP00000499759.1:p.Phe464= | |
| ENST00000310581.9:c.1392C>T | ENSP00000309572.5:p.Phe464= | |
| ENST00000334602.10:c.1392C>T | ENSP00000334346.6:p.Phe464= | |
| ENST00000460137.6:c.1392C>T | ENSP00000425003.1:p.Phe464= | |
| ENST00000508104.2:c.1392C>T | ENSP00000426042.2:p.Phe464= | |
| NM_001193376.1:c.1392C>T | NP_001180305.1:p.Phe464= | |
| NM_198253.2:c.1392C>T , LRG_343t1:c.1392C>T | NP_937983.2:p.Phe464= | |
| NR_149162.1:n.1450C>T | ||
| NR_149163.1:n.1450C>T | ||
| NM_001193376.2:c.1392C>T | NP_001180305.1:p.Phe464= | |
| NM_198253.3:c.1392C>T MANE Select | NP_937983.2:p.Phe464= | |
| NR_149162.2:n.1471C>T | ||
| NR_149163.2:n.1471C>T | ||
| NM_001193376.3:c.1392C>T | NP_001180305.1:p.Phe464= | |
| NR_149162.3:n.1471C>T | ||
| NR_149163.3:n.1471C>T |