Linked Data
ClinVar Variation Id:
2548465
ClinVar RCV Id:
RCV004321509
dbSNP Id:
rs535075716
ExAC:
5:134364488 G / C
gnomAD v2:
5-134364488-G-C
gnomAD v4:
5-135028798-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028798G>C , CM000667.2:g.135028798G>C | GRCh38 |
| NC_000005.9:g.134364488G>C , CM000667.1:g.134364488G>C | GRCh37 |
| NC_000005.8:g.134392387G>C | NCBI36 |
| NG_012114.1:g.10477C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.926C>G MANE Select | ENSP00000265340.6:p.Ala309Gly | |
| ENST00000265340.11:c.926C>G | ENSP00000265340.6:p.Ala309Gly | |
| ENST00000506438.5:c.926C>G | ENSP00000427542.1:p.Ala309Gly | |
| NM_002653.4:c.926C>G | NP_002644.4:p.Ala309Gly | |
| NM_002653.5:c.926C>G MANE Select | NP_002644.4:p.Ala309Gly |