Linked Data
ClinVar Variation Id:
144040
dbSNP Id:
rs149366137
ExAC:
11:73796017 T / A
gnomAD v2:
11-73796017-T-A
gnomAD v3:
11-74084972-T-A
gnomAD v4:
11-74084972-T-A
PubMed:
PMID:24997988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74084972T>A , CM000673.2:g.74084972T>A | GRCh38 |
| NC_000011.9:g.73796017T>A , CM000673.1:g.73796017T>A | GRCh37 |
| NC_000011.8:g.73473665T>A | NCBI36 |
| NG_041791.1:g.91048A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334126.12:c.3911-2A>T MANE Select | ENSP00000334379.7:n.3911-2A>T | |
| ENST00000414160.7:c.3911-2A>T | ENSP00000388750.3:n.3911-2A>T | |
| ENST00000442398.7:c.3911-2A>T | ENSP00000404577.3:n.3911-2A>T | |
| ENST00000538361.2:c.3911-2A>T | ENSP00000441742.2:n.3911-2A>T | |
| ENST00000679415.1:c.*3359-2A>T | ENSP00000505672.1:n.*3359-2A>T | |
| ENST00000679906.1:c.3911-2A>T | ENSP00000505021.1:n.3911-2A>T | |
| ENST00000680231.1:c.3911-2A>T | ENSP00000505413.1:n.3911-2A>T | |
| ENST00000680665.1:c.3911-2A>T | ENSP00000505527.1:n.3911-2A>T | |
| ENST00000680839.1:c.*2868-2A>T | ENSP00000506002.1:n.*2868-2A>T | |
| ENST00000681143.1:c.3911-2A>T | ENSP00000505970.1:n.3911-2A>T | |
| ENST00000681291.1:c.*3363-2A>T | ENSP00000505182.1:n.*3363-2A>T | |
| ENST00000681310.1:c.3911-2A>T | ENSP00000506236.1:n.3911-2A>T | |
| ENST00000681385.1:c.*3363-2A>T | ENSP00000505069.1:n.*3363-2A>T | |
| ENST00000681609.1:c.*2479-2A>T | ENSP00000505133.1:n.*2479-2A>T | |
| ENST00000681811.1:c.3911-2A>T | ENSP00000506315.1:n.3911-2A>T | |
| ENST00000681829.1:c.3911-2A>T | ENSP00000505375.1:n.3911-2A>T | |
| ENST00000681924.1:c.4007-2A>T | ENSP00000505101.1:n.4007-2A>T | |
| ENST00000313663.11:c.3911-2A>T | ENSP00000323339.7:n.3911-2A>T | |
| ENST00000334126.11:c.3911-2A>T | ENSP00000334379.7:n.3911-2A>T | |
| ENST00000414160.6:c.335-2A>T | ENSP00000388750.2:n.335-2A>T | |
| ENST00000442398.6:c.179-2A>T | ENSP00000404577.2:n.179-2A>T | |
| ENST00000535645.1:n.79-2A>T | ||
| NM_001286577.1:c.3911-2A>T | NP_001273506.1:n.3911-2A>T | |
| NM_015531.5:c.3911-2A>T | NP_056346.3:n.3911-2A>T | |
| XM_005273893.3:c.3911-2A>T | XP_005273950.1:n.3911-2A>T | |
| XM_005273896.3:c.3362-2A>T | XP_005273953.1:n.3362-2A>T | |
| XM_011544903.1:c.3941-2A>T | XP_011543205.1:n.3941-2A>T | |
| XM_011544904.1:c.3941-2A>T | XP_011543206.1:n.3941-2A>T | |
| XM_011544905.1:c.3941-2A>T | XP_011543207.1:n.3941-2A>T | |
| XM_011544906.1:c.2018-2A>T | XP_011543208.1:n.2018-2A>T | |
| XM_011544907.1:c.3941-2A>T | XP_011543209.1:n.3941-2A>T | |
| XM_011544908.1:c.1235-2A>T | XP_011543210.1:n.1235-2A>T | |
| XM_011544909.1:c.1115-2A>T | XP_011543211.1:n.1115-2A>T | |
| XR_949869.1:n.4037-2A>T | ||
| XR_949870.1:n.4037-2A>T | ||
| XR_949871.1:n.4037-2A>T | ||
| XR_949872.1:n.4037-2A>T | ||
| XR_949874.1:n.4037-2A>T | ||
| XM_017017510.1:c.3941-2A>T | XP_016872999.1:n.3941-2A>T | |
| XM_017017511.2:c.3362-2A>T | XP_016873000.1:n.3362-2A>T | |
| XM_017017512.1:c.2372-2A>T | XP_016873001.1:n.2372-2A>T | |
| XM_017017513.1:c.2018-2A>T | XP_016873002.1:n.2018-2A>T | |
| XM_017017514.1:c.3941-2A>T | XP_016873003.1:n.3941-2A>T | |
| XM_017017515.2:c.1235-2A>T | XP_016873004.1:n.1235-2A>T | |
| XM_017017516.1:c.1115-2A>T | XP_016873005.1:n.1115-2A>T | |
| XR_001747826.1:n.4037-2A>T | ||
| XR_001747827.1:n.4037-2A>T | ||
| XR_001747828.2:n.4037-2A>T | ||
| NM_015531.6:c.3911-2A>T | NP_056346.3:n.3911-2A>T | |
| NM_001286577.2:c.3911-2A>T MANE Select | NP_001273506.1:n.3911-2A>T |