Linked Data
ClinVar Variation Id:
498453
ClinVar RCV Id:
RCV000594269
RCV001161266
RCV001161267
RCV001161269
RCV001161268
RCV001161270
RCV001161265
RCV001468812
dbSNP Id:
rs183714869
ExAC:
6:42666186 G / A
gnomAD v2:
6-42666186-G-A
gnomAD v3:
6-42698448-G-A
gnomAD v4:
6-42698448-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698448G>A , CM000668.2:g.42698448G>A | GRCh38 |
| NC_000006.11:g.42666186G>A , CM000668.1:g.42666186G>A | GRCh37 |
| NC_000006.10:g.42774164G>A | NCBI36 |
| NG_009176.1:g.29173C>T | |
| NG_009176.2:g.29173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.888C>T MANE Select | ENSP00000230381.5:p.Pro296= | |
| ENST00000230381.6:c.888C>T | ENSP00000230381.5:p.Pro296= | |
| NM_000322.4:c.888C>T | NP_000313.2:p.Pro296= | |
| XR_427834.2:n.1696C>T | ||
| XR_427834.4:n.1746C>T | ||
| XR_926295.3:n.1775C>T | ||
| NM_000322.5:c.888C>T MANE Select | NP_000313.2:p.Pro296= |