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