Linked Data
ClinVar Variation Id:
953058
dbSNP Id:
rs77961246
ExAC:
17:42455140 A / G
gnomAD v2:
17-42455140-A-G
gnomAD v3:
17-44377772-A-G
gnomAD v4:
17-44377772-A-G
MyVariant Identifiers:
chr17:g.42455140A>G (hg19)
chr17:g.42455140_42455141delinsGG (hg19)
chr17:g.44377772A>G (hg38)
ERepo:
CA8602816/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44377772A>G , CM000679.2:g.44377772A>G | GRCh38 |
| NC_000017.10:g.42455140A>G , CM000679.1:g.42455140A>G | GRCh37 |
| NC_000017.9:g.39810666A>G | NCBI36 |
| NG_008331.1:g.16734T>C , LRG_479:g.16734T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.2113T>C MANE Select | ENSP00000262407.5:p.Cys705Arg | |
| ENST00000648408.1:c.1544T>C | ||
| ENST00000262407.5:c.2113T>C | ENSP00000262407.5:p.Cys705Arg | |
| ENST00000592462.5:n.908T>C | ||
| NM_000419.3:c.2113T>C , LRG_479t1:c.2113T>C | NP_000410.2:p.Cys705Arg | |
| XM_011524749.1:c.2113T>C | XP_011523051.1:p.Cys705Arg | |
| XM_011524750.1:c.2113T>C | XP_011523052.1:p.Cys705Arg | |
| NM_000419.4:c.2113T>C | NP_000410.2:p.Cys705Arg | |
| NM_000419.5:c.2113T>C MANE Select | NP_000410.2:p.Cys705Arg |