Linked Data
dbSNP Id:
rs16840114
gnomAD v2:
1-240625431-A-G
gnomAD v3:
1-240462131-A-G
gnomAD v4:
1-240462131-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240462131A>G , CM000663.2:g.240462131A>G | GRCh38 |
| NC_000001.10:g.240625431A>G , CM000663.1:g.240625431A>G | GRCh37 |
| NC_000001.9:g.238692054A>G | NCBI36 |
| NG_042054.1:g.375247A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319653.14:c.5061-10241A>G MANE Select | ENSP00000318884.9:n.5061-10241A>G | |
| ENST00000543681.2:n.1951+2688A>G | ||
| ENST00000545751.3:c.902-10241A>G | ||
| ENST00000679390.1:n.1323-10241A>G | ||
| ENST00000679646.1:n.4527-10241A>G | ||
| ENST00000679980.1:c.1330-10241A>G | ||
| ENST00000681131.1:c.1061-10241A>G | ||
| ENST00000681210.1:c.1281-10241A>G | ENSP00000505131.1:n.1281-10241A>G | |
| ENST00000681296.1:n.2248-10241A>G | ||
| ENST00000681741.1:c.*1105-10241A>G | ENSP00000505116.1:n.*1105-10241A>G | |
| ENST00000681805.1:c.1128-10241A>G | ||
| ENST00000681824.1:c.1188-10241A>G | ENSP00000505818.1:n.1188-10241A>G | |
| ENST00000319653.13:c.5061-10241A>G | ENSP00000318884.9:n.5061-10241A>G | |
| ENST00000543681.1:c.-699+2688A>G | ENSP00000439136.1:n.-699+2688A>G | |
| ENST00000545751.2:c.489-10241A>G | ENSP00000437918.2:n.489-10241A>G | |
| NM_001305424.1:c.5073-10241A>G | NP_001292353.1:n.5073-10241A>G | |
| NM_020066.4:c.5061-10241A>G | NP_064450.3:n.5061-10241A>G | |
| NM_001348094.1:c.2889-10241A>G | NP_001335023.1:n.2889-10241A>G | |
| XM_017001840.2:c.3201-10241A>G | XP_016857329.1:n.3201-10241A>G | |
| XM_017001841.2:c.3201-10241A>G | XP_016857330.1:n.3201-10241A>G | |
| NM_020066.5:c.5061-10241A>G MANE Select | NP_064450.3:n.5061-10241A>G | |
| NM_001305424.2:c.5073-10241A>G | NP_001292353.1:n.5073-10241A>G | |
| NM_001348094.2:c.2889-10241A>G | NP_001335023.1:n.2889-10241A>G |