Linked Data
dbSNP Id:
rs2272087
ExAC:
17:40459562 A / G
gnomAD v2:
17-40459562-A-G
gnomAD v3:
17-42307544-A-G
gnomAD v4:
17-42307544-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42307544A>G , CM000679.2:g.42307544A>G | GRCh38 |
| NC_000017.10:g.40459562A>G , CM000679.1:g.40459562A>G | GRCh37 |
| NC_000017.9:g.37713088A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587646.2:n.374-49A>G | ||
| ENST00000590726.7:c.1368-49A>G | ENSP00000464730.3:n.1368-49A>G | |
| ENST00000590949.6:c.1776-49A>G MANE Select | ENSP00000468749.1:n.1776-49A>G | |
| ENST00000676585.1:c.1776-49A>G | ENSP00000504449.1:n.1776-49A>G | |
| ENST00000676631.1:c.1776-49A>G | ENSP00000503484.1:n.1776-49A>G | |
| ENST00000677301.1:c.1776-49A>G | ENSP00000503262.1:n.1776-49A>G | |
| ENST00000677893.1:c.1770-49A>G | ENSP00000504833.1:n.1770-49A>G | |
| ENST00000678903.1:c.1725-49A>G | ENSP00000503304.1:n.1725-49A>G | |
| ENST00000345506.8:c.1776-49A>G | ENSP00000341208.4:n.1776-49A>G | |
| ENST00000468096.5:n.430-49A>G | ||
| ENST00000546010.6:c.1686-49A>G | ENSP00000443107.1:n.1686-49A>G | |
| ENST00000587646.1:c.240-49A>G | ENSP00000466320.1:n.240-49A>G | |
| ENST00000588868.5:c.1683-49A>G | ENSP00000465437.1:n.1683-49A>G | |
| ENST00000590949.5:c.1776-49A>G | ENSP00000468749.1:n.1776-49A>G | |
| ENST00000591556.1:n.428-49A>G | ||
| NM_001288718.1:c.1776-49A>G | NP_001275647.1:n.1776-49A>G | |
| NM_001288719.1:c.1686-49A>G | NP_001275648.1:n.1686-49A>G | |
| NM_001288720.1:c.1683-49A>G | NP_001275649.1:n.1683-49A>G | |
| NM_003152.3:c.1776-49A>G | NP_003143.2:n.1776-49A>G | |
| XM_005257624.2:c.1776-49A>G | XP_005257681.1:n.1776-49A>G | |
| XM_005257624.3:c.1776-49A>G | XP_005257681.1:n.1776-49A>G | |
| NM_001288718.2:c.1776-49A>G MANE Select | NP_001275647.1:n.1776-49A>G | |
| NM_001288719.2:c.1686-49A>G | NP_001275648.1:n.1686-49A>G | |
| NM_001288720.2:c.1683-49A>G | NP_001275649.1:n.1683-49A>G | |
| NM_003152.4:c.1776-49A>G | NP_003143.2:n.1776-49A>G |