Linked Data
ClinVar Variation Id:
138904
ClinVar RCV Id:
RCV000153781
RCV000285041
RCV000288514
RCV000391586
RCV000324837
RCV000339530
RCV000379504
RCV001511185
RCV001789195
RCV001789196
RCV003888534
dbSNP Id:
rs390659
ExAC:
6:42666164 G / C
gnomAD v2:
6-42666164-G-C
gnomAD v3:
6-42698426-G-C
gnomAD v4:
6-42698426-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698426G>C , CM000668.2:g.42698426G>C | GRCh38 |
| NC_000006.11:g.42666164G>C , CM000668.1:g.42666164G>C | GRCh37 |
| NC_000006.10:g.42774142G>C | NCBI36 |
| NG_009176.1:g.29195C>G | |
| NG_009176.2:g.29195C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.910C>G MANE Select | ENSP00000230381.5:p.Gln304Glu | |
| ENST00000230381.6:c.910C>G | ENSP00000230381.5:p.Gln304Glu | |
| NM_000322.4:c.910C>G | NP_000313.2:p.Gln304Glu | |
| XR_427834.2:n.1718C>G | ||
| XR_427834.4:n.1768C>G | ||
| XR_926295.3:n.1797C>G | ||
| NM_000322.5:c.910C>G MANE Select | NP_000313.2:p.Gln304Glu |