Linked Data
dbSNP Id:
rs141066019
ExAC:
1:196964813 C / A
gnomAD v2:
1-196964813-C-A
gnomAD v3:
1-196995683-C-A
gnomAD v4:
1-196995683-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995683C>A , CM000663.2:g.196995683C>A | GRCh38 |
| NC_000001.10:g.196964813C>A , CM000663.1:g.196964813C>A | GRCh37 |
| NC_000001.9:g.195231436C>A | NCBI36 |
| NG_016365.1:g.23147C>A , LRG_227:g.23147C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.353-34C>A | ENSP00000514393.1:n.353-34C>A | |
| ENST00000699467.1:n.677-34C>A | ||
| ENST00000699468.1:c.-24-431C>A | ENSP00000514394.1:n.-24-431C>A | |
| ENST00000256785.5:c.608-34C>A MANE Select | ENSP00000256785.4:n.608-34C>A | |
| ENST00000256785.4:c.608-34C>A | ENSP00000256785.4:n.608-34C>A | |
| NM_030787.3:c.608-34C>A , LRG_227t1:c.608-34C>A | NP_110414.1:n.608-34C>A | |
| XM_011510020.1:c.617-34C>A | XP_011508322.1:n.617-34C>A | |
| XM_011510020.2:c.617-34C>A | XP_011508322.1:n.617-34C>A | |
| NM_030787.4:c.608-34C>A MANE Select | NP_110414.1:n.608-34C>A |