Linked Data
ClinVar Variation Id:
45
ClinVar RCV Id:
RCV000000062
dbSNP Id:
rs397704728
PubMed:
PMID:20671153
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63492941C>A , CM000664.2:g.63492941C>A | GRCh38 |
| NC_000002.11:g.63720075C>A , CM000664.1:g.63720075C>A | GRCh37 |
| NC_000002.10:g.63573579C>A | NCBI36 |
| NG_028144.1:g.100793G>T | |
| NG_028144.2:g.352885G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.76-1G>T MANE Select | ENSP00000272321.7:n.76-1G>T | |
| ENST00000272321.11:c.76-1G>T | ENSP00000272321.7:n.76-1G>T | |
| ENST00000409562.7:c.76-1G>T | ENSP00000387222.3:n.76-1G>T | |
| ENST00000409835.5:n.323-1G>T | ||
| ENST00000417238.5:c.*187-1G>T | ENSP00000411429.1:n.*187-1G>T | |
| ENST00000418148.5:c.71-1G>T | ||
| ENST00000431065.1:c.76-1G>T | ENSP00000396226.1:n.76-1G>T | |
| ENST00000467687.1:n.489-1G>T | ||
| ENST00000490935.5:n.584-1G>T | ||
| NM_015910.5:c.76-1G>T | NP_056994.3:n.76-1G>T | |
| XM_005264348.2:c.76-1G>T | XP_005264405.1:n.76-1G>T | |
| XM_011532881.1:c.4-1G>T | XP_011531183.1:n.4-1G>T | |
| XM_011532882.1:c.-24-1G>T | XP_011531184.1:n.-24-1G>T | |
| XM_011532883.1:c.76-1G>T | XP_011531185.1:n.76-1G>T | |
| XM_011532884.1:c.76-1G>T | XP_011531186.1:n.76-1G>T | |
| XM_011532885.1:c.76-1G>T | XP_011531187.1:n.76-1G>T | |
| XM_011532886.1:c.76-1G>T | XP_011531188.1:n.76-1G>T | |
| XM_011532887.1:c.76-1G>T | XP_011531189.1:n.76-1G>T | |
| XM_011532888.1:c.76-1G>T | XP_011531190.1:n.76-1G>T | |
| XM_011532889.1:c.76-1G>T | XP_011531191.1:n.76-1G>T | |
| XM_011532890.1:c.76-1G>T | XP_011531192.1:n.76-1G>T | |
| XM_011532891.1:c.4-1G>T | XP_011531193.1:n.4-1G>T | |
| XR_244934.1:n.323-1G>T | ||
| XR_244935.1:n.323-1G>T | ||
| XR_939686.1:n.323-1G>T | ||
| NM_001354044.1:c.4-1G>T | NP_001340973.1:n.4-1G>T | |
| NM_001354045.1:c.76-1G>T | NP_001340974.1:n.76-1G>T | |
| NM_015910.6:c.76-1G>T | NP_056994.3:n.76-1G>T | |
| NR_148704.1:n.856-1G>T | ||
| NR_148705.1:n.604-1G>T | ||
| XM_005264348.4:c.76-1G>T | XP_005264405.1:n.76-1G>T | |
| XM_011532881.3:c.4-1G>T | XP_011531183.1:n.4-1G>T | |
| XM_011532884.3:c.76-1G>T | XP_011531186.1:n.76-1G>T | |
| XM_011532887.3:c.76-1G>T | XP_011531189.1:n.76-1G>T | |
| XM_011532890.3:c.76-1G>T | XP_011531192.1:n.76-1G>T | |
| XM_011532891.2:c.4-1G>T | XP_011531193.1:n.4-1G>T | |
| XM_017004253.2:c.76-1G>T | XP_016859742.1:n.76-1G>T | |
| XM_017004254.2:c.76-1G>T | XP_016859743.1:n.76-1G>T | |
| XR_001738759.2:n.538-1G>T | ||
| XR_001738760.2:n.538-1G>T | ||
| XR_002959303.1:n.538-1G>T | ||
| XR_244934.3:n.538-1G>T | ||
| NM_015910.7:c.76-1G>T MANE Select | NP_056994.3:n.76-1G>T | |
| NM_001354044.2:c.4-1G>T | NP_001340973.1:n.4-1G>T | |
| NM_001354045.2:c.76-1G>T | NP_001340974.1:n.76-1G>T | |
| NR_148704.2:n.534-1G>T | ||
| NR_148705.2:n.282-1G>T |