Linked Data
ClinVar Variation Id:
138906
ClinVar RCV Id:
RCV000127756
RCV000153779
RCV000338398
RCV000277323
RCV000388148
RCV000373093
RCV000280986
RCV000316146
RCV001511183
RCV001789200
RCV001789199
RCV003888536
dbSNP Id:
rs434102
ExAC:
6:42666061 T / C
gnomAD v2:
6-42666061-T-C
gnomAD v3:
6-42698323-T-C
gnomAD v4:
6-42698323-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698323T>C , CM000668.2:g.42698323T>C | GRCh38 |
| NC_000006.11:g.42666061T>C , CM000668.1:g.42666061T>C | GRCh37 |
| NC_000006.10:g.42774039T>C | NCBI36 |
| NG_009176.1:g.29298A>G | |
| NG_009176.2:g.29298A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.1013A>G MANE Select | ENSP00000230381.5:p.Asp338Gly | |
| ENST00000230381.6:c.1013A>G | ENSP00000230381.5:p.Asp338Gly | |
| NM_000322.4:c.1013A>G | NP_000313.2:p.Asp338Gly | |
| XR_926295.3:n.1900A>G | ||
| NM_000322.5:c.1013A>G MANE Select | NP_000313.2:p.Asp338Gly |