Linked Data
ClinVar Variation Id:
16223
ClinVar RCV Id:
RCV000017610
dbSNP Id:
rs121909669
PubMed:
PMID:19251627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31191410G>A , CM000678.2:g.31191410G>A | GRCh38 |
| NC_000016.9:g.31202731G>A , CM000678.1:g.31202731G>A | GRCh37 |
| NC_000016.8:g.31110232G>A | NCBI36 |
| NG_012889.2:g.16279G>A , LRG_655:g.16279G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254108.12:c.1553G>A MANE Select | ENSP00000254108.8:p.Arg518Lys | |
| ENST00000254108.11:c.1553G>A | ENSP00000254108.7:p.Arg518Lys | |
| ENST00000380244.7:c.1550G>A | ENSP00000369594.3:p.Arg517Lys | |
| ENST00000483853.1:n.630G>A | ||
| ENST00000487509.6:n.4728G>A | ||
| ENST00000566605.5:c.*726G>A | ENSP00000455073.1:n.*726G>A | |
| ENST00000568685.1:c.1556G>A | ENSP00000455282.1:p.Arg519Lys | |
| ENST00000569760.5:n.444G>A | ||
| NM_001170634.1:c.1550G>A | NP_001164105.1:p.Arg517Lys | |
| NM_001170937.1:c.1541G>A | NP_001164408.1:p.Arg514Lys | |
| NM_004960.3:c.1553G>A , LRG_655t1:c.1553G>A | NP_004951.1:p.Arg518Lys | |
| NR_028388.2:n.1623G>A | ||
| XM_005255233.3:c.938G>A | XP_005255290.1:p.Arg313Lys | |
| XM_011545781.1:c.1547G>A | XP_011544083.1:p.Arg516Lys | |
| XM_011545782.1:c.938G>A | XP_011544084.1:p.Arg313Lys | |
| XM_005255233.5:c.938G>A | XP_005255290.1:p.Arg313Lys | |
| XM_011545782.2:c.938G>A | XP_011544084.1:p.Arg313Lys | |
| XM_024450221.1:c.1544G>A | XP_024305989.1:p.Arg515Lys | |
| NM_004960.4:c.1553G>A MANE Select | NP_004951.1:p.Arg518Lys |