Linked Data
dbSNP Id:
rs577924460
ExAC:
11:68703802 C / A
gnomAD v2:
11-68703802-C-A
gnomAD v3:
11-68936334-C-A
gnomAD v4:
11-68936334-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936334C>A , CM000673.2:g.68936334C>A | GRCh38 |
| NC_000011.9:g.68703802C>A , CM000673.1:g.68703802C>A | GRCh37 |
| NC_000011.8:g.68460378C>A | NCBI36 |
| NG_007976.1:g.37484C>A , LRG_250:g.37484C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1854C>A MANE Select | ENSP00000255078.4:p.Asn618Lys | |
| ENST00000674675.1:c.98C>A | ||
| ENST00000674878.1:c.98C>A | ||
| ENST00000674955.1:c.*571C>A | ENSP00000502463.1:n.*571C>A | |
| ENST00000675118.1:c.1342C>A | ||
| ENST00000675389.1:n.129C>A | ||
| ENST00000675615.1:c.1854C>A | ENSP00000502413.1:p.Asn618Lys | |
| ENST00000675648.1:n.1229C>A | ||
| ENST00000675916.1:c.98C>A | ||
| ENST00000676173.1:n.2599C>A | ||
| ENST00000676182.1:c.285C>A | ||
| ENST00000676228.1:c.*1177C>A | ENSP00000502375.1:n.*1177C>A | |
| ENST00000255078.7:c.1854C>A | ENSP00000255078.3:p.Asn618Lys | |
| ENST00000539064.5:n.1613C>A | ||
| ENST00000541229.5:n.549C>A | ||
| ENST00000543739.5:n.847C>A | ||
| ENST00000545475.1:n.450C>A | ||
| NM_002180.2:c.1854C>A , LRG_250t1:c.1854C>A | NP_002171.2:p.Asn618Lys | |
| XM_005273974.2:c.843C>A | XP_005274031.1:p.Asn281Lys | |
| XM_005273975.2:c.726C>A | XP_005274032.1:p.Asn242Lys | |
| XM_011544994.1:c.621C>A | XP_011543296.1:p.Asn207Lys | |
| XR_949903.1:n.1956C>A | ||
| XM_005273975.3:c.726C>A | XP_005274032.1:p.Asn242Lys | |
| XM_017017669.2:c.843C>A | XP_016873158.1:p.Asn281Lys | |
| XM_017017670.2:c.843C>A | XP_016873159.1:p.Asn281Lys | |
| XR_949903.3:n.1952C>A | ||
| NM_002180.3:c.1854C>A MANE Select | NP_002171.2:p.Asn618Lys |