Linked Data
ClinVar Variation Id:
136989
dbSNP Id:
rs61730662
ExAC:
16:57493629 G / C
gnomAD v2:
16-57493629-G-C
gnomAD v3:
16-57459717-G-C
gnomAD v4:
16-57459717-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57459717G>C , CM000678.2:g.57459717G>C | GRCh38 |
| NC_000016.9:g.57493629G>C , CM000678.1:g.57493629G>C | GRCh37 |
| NC_000016.8:g.56051130G>C | NCBI36 |
| NG_027696.1:g.17293G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262507.11:c.864G>C MANE Select | ENSP00000262507.5:p.Lys288Asn | |
| ENST00000262507.10:c.864G>C | ENSP00000262507.5:p.Lys288Asn | |
| ENST00000563166.1:c.304-1455G>C | ENSP00000455495.1:n.304-1455G>C | |
| ENST00000564115.5:c.*212G>C | ENSP00000455256.1:n.*212G>C | |
| ENST00000564655.5:c.876G>C | ENSP00000454992.1:p.Lys292Asn | |
| ENST00000567072.5:c.759G>C | ENSP00000456728.1:p.Lys253Asn | |
| ENST00000567933.5:c.531G>C | ENSP00000456174.1:p.Lys177Asn | |
| ENST00000569980.1:n.379G>C | ||
| NM_020312.3:c.864G>C | NP_064708.1:p.Lys288Asn | |
| NM_020312.4:c.864G>C MANE Select | NP_064708.1:p.Lys288Asn |