Linked Data
ClinVar Variation Id:
35490
ClinVar RCV Id:
RCV000029162
dbSNP Id:
rs172151858
gnomAD v4:
19-49200395-A-G
PubMed:
PMID:21887725
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49200395A>G , CM000681.2:g.49200395A>G | GRCh38 |
| NC_000019.9:g.49703652A>G , CM000681.1:g.49703652A>G | GRCh37 |
| NC_000019.8:g.54395464A>G | NCBI36 |
| NG_027551.1:g.47637A>G | |
| NG_027551.2:g.47637A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252826.10:c.2741A>G MANE Select | ENSP00000252826.4:p.Lys914Arg | |
| ENST00000252826.9:c.2741A>G | ENSP00000252826.4:p.Lys914Arg | |
| ENST00000427978.6:c.2306A>G | ENSP00000407492.1:p.Lys769Arg | |
| ENST00000595071.5:n.1705A>G | ||
| ENST00000595519.5:c.*2151A>G | ENSP00000469893.1:n.*2151A>G | |
| ENST00000596338.5:n.2838A>G | ||
| ENST00000598502.5:c.*1854A>G | ENSP00000470229.1:n.*1854A>G | |
| ENST00000598697.5:c.*1696A>G | ENSP00000468989.1:n.*1696A>G | |
| NM_001195227.1:c.2306A>G | NP_001182156.1:p.Lys769Arg | |
| NM_017636.3:c.2741A>G | NP_060106.2:p.Lys914Arg | |
| XM_005259017.1:c.1454A>G | XP_005259074.1:p.Lys485Arg | |
| XM_005259018.2:c.1133A>G | XP_005259075.1:p.Lys378Arg | |
| XM_011527046.1:c.2219A>G | XP_011525348.1:p.Lys740Arg | |
| NM_001321281.1:c.2396A>G | NP_001308210.1:p.Lys799Arg | |
| NM_001321282.1:c.1133A>G | NP_001308211.1:p.Lys378Arg | |
| NM_001321283.1:c.2219A>G | NP_001308212.1:p.Lys740Arg | |
| NM_001321285.1:c.1679A>G | NP_001308214.1:p.Lys560Arg | |
| XM_024451557.1:c.767A>G | XP_024307325.1:p.Lys256Arg | |
| NM_017636.4:c.2741A>G MANE Select | NP_060106.2:p.Lys914Arg | |
| NM_001195227.2:c.2306A>G | NP_001182156.1:p.Lys769Arg | |
| NM_001321281.2:c.2396A>G | NP_001308210.1:p.Lys799Arg | |
| NM_001321282.2:c.1133A>G | NP_001308211.1:p.Lys378Arg | |
| NM_001321283.2:c.2219A>G | NP_001308212.1:p.Lys740Arg | |
| NM_001321285.2:c.1679A>G | NP_001308214.1:p.Lys560Arg |