Linked Data
ClinVar Variation Id:
1156518
dbSNP Id:
rs10774671
ExAC:
12:113357193 G / A
gnomAD v2:
12-113357193-G-A
gnomAD v3:
12-112919388-G-A
gnomAD v4:
12-112919388-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112919388G>A , CM000674.2:g.112919388G>A | GRCh38 |
| NC_000012.11:g.113357193G>A , CM000674.1:g.113357193G>A | GRCh37 |
| NC_000012.10:g.111841576G>A | NCBI36 |
| NG_011530.1:g.17455G>A | |
| NG_011530.2:g.17455G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000202917.10:c.1039-1G>A MANE Select | ENSP00000202917.5:n.1039-1G>A | |
| ENST00000445409.7:c.1039-99G>A | ENSP00000388001.2:n.1039-99G>A | |
| ENST00000452357.7:c.*1631G>A | ENSP00000415721.2:n.*1631G>A | |
| ENST00000540589.3:c.1039-99G>A | ENSP00000474083.2:n.1039-99G>A | |
| ENST00000549820.2:n.1914-1G>A | ||
| ENST00000550883.2:c.*2613G>A | ENSP00000450286.2:n.*2613G>A | |
| ENST00000551241.6:c.1038+1688G>A | ENSP00000448790.1:n.1038+1688G>A | |
| ENST00000552526.2:c.1039-1G>A | ENSP00000475139.2:n.1039-1G>A | |
| ENST00000553152.2:c.*675G>A | ENSP00000449053.2:n.*675G>A | |
| ENST00000679413.1:n.3257-1G>A | ||
| ENST00000679467.1:c.1054-1G>A | ENSP00000506593.1:n.1054-1G>A | |
| ENST00000679494.1:c.885-1G>A | ENSP00000505090.1:n.885-1G>A | |
| ENST00000679767.1:c.*380-1G>A | ENSP00000505476.1:n.*380-1G>A | |
| ENST00000679971.1:c.565-99G>A | ENSP00000505786.1:n.565-99G>A | |
| ENST00000679987.1:c.1060-1G>A | ENSP00000504970.1:n.1060-1G>A | |
| ENST00000680189.1:c.1039-1G>A | ENSP00000505572.1:n.1039-1G>A | |
| ENST00000680455.1:c.565-1G>A | ENSP00000505165.1:n.565-1G>A | |
| ENST00000680522.1:c.*548-1G>A | ENSP00000506485.1:n.*548-1G>A | |
| ENST00000680659.1:c.*26G>A | ENSP00000504942.1:n.*26G>A | |
| ENST00000680919.1:c.*333-1G>A | ENSP00000506474.1:n.*333-1G>A | |
| ENST00000680934.1:c.885-99G>A | ENSP00000505028.1:n.885-99G>A | |
| ENST00000681228.1:c.952-1G>A | ENSP00000505703.1:n.952-1G>A | |
| ENST00000681436.1:n.7026-1G>A | ||
| ENST00000681505.1:c.*380-1G>A | ENSP00000505794.1:n.*380-1G>A | |
| ENST00000681700.1:c.1015-1G>A | ENSP00000506580.1:n.1015-1G>A | |
| ENST00000681934.1:c.1039-1G>A | ENSP00000505482.1:n.1039-1G>A | |
| ENST00000202917.9:c.1039-1G>A | ENSP00000202917.5:n.1039-1G>A | |
| ENST00000445409.6:c.1039-99G>A | ENSP00000388001.2:n.1039-99G>A | |
| ENST00000551241.5:c.1038+1688G>A | ENSP00000448790.1:n.1038+1688G>A | |
| NM_001032409.1:c.1039-99G>A | NP_001027581.1:n.1039-99G>A | |
| NM_016816.2:c.1039-1G>A | NP_058132.2:n.1039-1G>A | |
| XM_006719434.1:c.*675G>A | XP_006719497.1:n.*675G>A | |
| XM_011538413.1:c.1015-99G>A | XP_011536715.1:n.1015-99G>A | |
| XM_011538414.1:c.1038+1688G>A | XP_011536716.1:n.1038+1688G>A | |
| XR_944557.1:n.1082-1G>A | ||
| NM_001032409.2:c.1039-99G>A | NP_001027581.1:n.1039-99G>A | |
| NM_001320151.1:c.1038+1688G>A | NP_001307080.1:n.1038+1688G>A | |
| NM_016816.3:c.1039-1G>A | NP_058132.2:n.1039-1G>A | |
| XM_006719434.2:c.*675G>A | XP_006719497.1:n.*675G>A | |
| XM_011538413.2:c.1015-99G>A | XP_011536715.1:n.1015-99G>A | |
| XM_017019361.2:c.1015-1G>A | XP_016874850.1:n.1015-1G>A | |
| XM_017019362.1:c.550-1G>A | XP_016874851.1:n.550-1G>A | |
| NM_016816.4:c.1039-1G>A MANE Select | NP_058132.2:n.1039-1G>A | |
| NM_001032409.3:c.1039-99G>A | NP_001027581.1:n.1039-99G>A | |
| NM_001320151.2:c.1038+1688G>A | NP_001307080.1:n.1038+1688G>A |