Linked Data
ClinVar Variation Id:
100769
dbSNP Id:
rs587777152
ExAC:
2:135883820 G / A
gnomAD v2:
2-135883820-G-A
gnomAD v3:
2-135126250-G-A
gnomAD v4:
2-135126250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135126250G>A , CM000664.2:g.135126250G>A | GRCh38 |
| NC_000002.11:g.135883820G>A , CM000664.1:g.135883820G>A | GRCh37 |
| NC_000002.10:g.135600290G>A | NCBI36 |
| NG_016972.1:g.78986G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539493.3:c.899+1G>A | ENSP00000444306.2:n.899+1G>A | |
| ENST00000685967.1:c.*356+1G>A | ENSP00000508423.1:n.*356+1G>A | |
| ENST00000686114.1:n.913G>A | ||
| ENST00000687199.1:c.*967+1G>A | ENSP00000510319.1:n.*967+1G>A | |
| ENST00000688088.1:n.918+1G>A | ||
| ENST00000688182.1:c.151-41443G>A | ENSP00000509324.1:n.151-41443G>A | |
| ENST00000689880.1:n.918+1G>A | ||
| ENST00000690208.1:c.*577+1G>A | ENSP00000510746.1:n.*577+1G>A | |
| ENST00000690785.1:n.918+1G>A | ||
| ENST00000691339.1:c.*522+1G>A | ENSP00000509953.1:n.*522+1G>A | |
| ENST00000691478.1:c.*998+1G>A | ENSP00000509081.1:n.*998+1G>A | |
| ENST00000693554.1:c.899+1G>A | ENSP00000509030.1:n.899+1G>A | |
| ENST00000264158.13:c.899+1G>A MANE Select | ENSP00000264158.8:n.899+1G>A | |
| ENST00000264158.12:c.899+1G>A | ENSP00000264158.7:n.899+1G>A | |
| ENST00000442034.5:c.899+1G>A | ENSP00000411418.1:n.899+1G>A | |
| ENST00000487003.5:n.968+1G>A | ||
| ENST00000489858.1:n.236+1G>A | ||
| ENST00000539493.2:c.767+1G>A | ENSP00000444306.1:n.767+1G>A | |
| NM_001172435.1:c.899+1G>A | NP_001165906.1:n.899+1G>A | |
| NM_012233.2:c.899+1G>A | NP_036365.1:n.899+1G>A | |
| XM_011510822.1:c.899+1G>A | XP_011509124.1:n.899+1G>A | |
| XM_011510823.1:c.899+1G>A | XP_011509125.1:n.899+1G>A | |
| XM_011510824.1:c.899+1G>A | XP_011509126.1:n.899+1G>A | |
| XM_011510825.1:c.899+1G>A | XP_011509127.1:n.899+1G>A | |
| XM_011510823.3:c.899+1G>A | XP_011509125.1:n.899+1G>A | |
| XM_011510825.3:c.899+1G>A | XP_011509127.1:n.899+1G>A | |
| XR_001738674.2:n.926+1G>A | ||
| NM_001172435.2:c.899+1G>A | NP_001165906.1:n.899+1G>A | |
| NM_012233.3:c.899+1G>A MANE Select | NP_036365.1:n.899+1G>A |