Linked Data
ClinVar Variation Id:
47
ClinVar RCV Id:
RCV000000064
dbSNP Id:
rs267606693
gnomAD v2:
2-63714625-C-T
gnomAD v4:
2-63487491-C-T
PubMed:
PMID:20671153
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63487491C>T , CM000664.2:g.63487491C>T | GRCh38 |
| NC_000002.11:g.63714625C>T , CM000664.1:g.63714625C>T | GRCh37 |
| NC_000002.10:g.63568129C>T | NCBI36 |
| NG_028144.1:g.106243G>A | |
| NG_028144.2:g.358335G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272321.12:c.164G>A MANE Select | ENSP00000272321.7:p.Arg55Lys | |
| ENST00000272321.11:c.164G>A | ENSP00000272321.7:p.Arg55Lys | |
| ENST00000409562.7:c.164G>A | ENSP00000387222.3:p.Arg55Lys | |
| ENST00000409835.5:n.411G>A | ||
| ENST00000417238.5:c.*275G>A | ENSP00000411429.1:n.*275G>A | |
| ENST00000418148.5:c.159G>A | ||
| ENST00000431065.1:c.164G>A | ENSP00000396226.1:p.Arg55Lys | |
| ENST00000467687.1:n.577G>A | ||
| ENST00000490935.5:n.672G>A | ||
| NM_015910.5:c.164G>A | NP_056994.3:p.Arg55Lys | |
| XM_005264348.2:c.164G>A | XP_005264405.1:p.Arg55Lys | |
| XM_011532881.1:c.92G>A | XP_011531183.1:p.Arg31Lys | |
| XM_011532882.1:c.65G>A | XP_011531184.1:p.Arg22Lys | |
| XM_011532883.1:c.164G>A | XP_011531185.1:p.Arg55Lys | |
| XM_011532884.1:c.164G>A | XP_011531186.1:p.Arg55Lys | |
| XM_011532885.1:c.164G>A | XP_011531187.1:p.Arg55Lys | |
| XM_011532886.1:c.164G>A | XP_011531188.1:p.Arg55Lys | |
| XM_011532887.1:c.164G>A | XP_011531189.1:p.Arg55Lys | |
| XM_011532888.1:c.164G>A | XP_011531190.1:p.Arg55Lys | |
| XM_011532889.1:c.164G>A | XP_011531191.1:p.Arg55Lys | |
| XM_011532890.1:c.164G>A | XP_011531192.1:p.Arg55Lys | |
| XM_011532891.1:c.92G>A | XP_011531193.1:p.Arg31Lys | |
| XR_244934.1:n.411G>A | ||
| XR_244935.1:n.411G>A | ||
| XR_939686.1:n.411G>A | ||
| NM_001354044.1:c.92G>A | NP_001340973.1:p.Arg31Lys | |
| NM_001354045.1:c.164G>A | NP_001340974.1:p.Arg55Lys | |
| NM_015910.6:c.164G>A | NP_056994.3:p.Arg55Lys | |
| NR_148704.1:n.944G>A | ||
| NR_148705.1:n.692G>A | ||
| XM_005264348.4:c.164G>A | XP_005264405.1:p.Arg55Lys | |
| XM_011532881.3:c.92G>A | XP_011531183.1:p.Arg31Lys | |
| XM_011532884.3:c.164G>A | XP_011531186.1:p.Arg55Lys | |
| XM_011532887.3:c.164G>A | XP_011531189.1:p.Arg55Lys | |
| XM_011532890.3:c.164G>A | XP_011531192.1:p.Arg55Lys | |
| XM_011532891.2:c.92G>A | XP_011531193.1:p.Arg31Lys | |
| XM_017004253.2:c.164G>A | XP_016859742.1:p.Arg55Lys | |
| XM_017004254.2:c.164G>A | XP_016859743.1:p.Arg55Lys | |
| XR_001738759.2:n.626G>A | ||
| XR_001738760.2:n.626G>A | ||
| XR_002959303.1:n.626G>A | ||
| XR_244934.3:n.626G>A | ||
| NM_015910.7:c.164G>A MANE Select | NP_056994.3:p.Arg55Lys | |
| NM_001354044.2:c.92G>A | NP_001340973.1:p.Arg31Lys | |
| NM_001354045.2:c.164G>A | NP_001340974.1:p.Arg55Lys | |
| NR_148704.2:n.622G>A | ||
| NR_148705.2:n.370G>A |