Linked Data
ClinVar Variation Id:
403223
ClinVar RCV Id:
RCV000454733
dbSNP Id:
rs141922962
ExAC:
21:44317156 A / C
gnomAD v2:
21-44317156-A-C
gnomAD v3:
21-42897046-A-C
gnomAD v4:
21-42897046-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42897046A>C , CM000683.2:g.42897046A>C | GRCh38 |
| NC_000021.8:g.44317156A>C , CM000683.1:g.44317156A>C | GRCh37 |
| NC_000021.7:g.43190225A>C | NCBI36 |
| NG_042281.1:g.8779A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354250.7:c.168A>C MANE Select | ENSP00000346196.2:p.Lys56Asn | |
| ENST00000340344.4:c.168A>C | ENSP00000342895.3:p.Lys56Asn | |
| ENST00000354250.6:c.168A>C | ENSP00000346196.2:p.Lys56Asn | |
| ENST00000460259.1:n.691A>C | ||
| ENST00000460740.1:n.61+3665A>C | ||
| NM_001001503.1:c.168A>C | NP_001001503.1:p.Lys56Asn | |
| NM_021075.3:c.168A>C | NP_066553.3:p.Lys56Asn | |
| XM_011529586.1:c.168A>C | XP_011527888.1:p.Lys56Asn | |
| XM_011529586.2:c.168A>C | XP_011527888.1:p.Lys56Asn | |
| XM_017028359.1:c.168A>C | XP_016883848.1:p.Lys56Asn | |
| NM_021075.4:c.168A>C MANE Select | NP_066553.3:p.Lys56Asn | |
| NM_001001503.2:c.168A>C | NP_001001503.1:p.Lys56Asn |