Linked Data
dbSNP Id:
rs1471911794
gnomAD v2:
11-69633507-G-C
gnomAD v3:
11-69818739-G-C
gnomAD v4:
11-69818739-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69818739G>C , CM000673.2:g.69818739G>C | GRCh38 |
| NC_000011.9:g.69633507G>C , CM000673.1:g.69633507G>C | GRCh37 |
| NC_000011.8:g.69342444G>C | NCBI36 |
| NG_009016.1:g.5686C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334134.4:c.195C>G MANE Select | ENSP00000334122.2:p.Asn65Lys | |
| ENST00000334134.2:c.195C>G | ENSP00000334122.2:p.Asn65Lys | |
| NM_005247.2:c.195C>G | NP_005238.1:p.Asn65Lys | |
| NM_005247.3:c.195C>G | NP_005238.1:p.Asn65Lys | |
| NM_005247.4:c.195C>G MANE Select | NP_005238.1:p.Asn65Lys |