Linked Data
dbSNP Id:
rs1342866
gnomAD v2:
1-241960669-C-T
gnomAD v3:
1-241797367-C-T
gnomAD v4:
1-241797367-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241797367C>T , CM000663.2:g.241797367C>T | GRCh38 |
| NC_000001.10:g.241960669C>T , CM000663.1:g.241960669C>T | GRCh37 |
| NC_000001.9:g.240027292C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425826.3:c.*1423+997C>T | ENSP00000406342.3:n.*1423+997C>T | |
| ENST00000437684.7:c.3192+997C>T MANE Select | ENSP00000402446.4:n.3192+997C>T | |
| ENST00000366552.6:c.3162+997C>T | ENSP00000355510.2:n.3162+997C>T | |
| ENST00000414635.5:c.1974+997C>T | ENSP00000406656.1:n.1974+997C>T | |
| ENST00000425826.2:c.1598+997C>T | ||
| ENST00000437684.6:c.1825+993C>T | ENSP00000402446.3:n.1825+993C>T | |
| NM_144625.4:c.3162+997C>T | NP_653226.4:n.3162+997C>T | |
| XM_006711736.2:c.3192+997C>T | XP_006711799.1:n.3192+997C>T | |
| XM_011544084.1:c.2709+997C>T | XP_011542386.1:n.2709+997C>T | |
| XM_011544085.1:c.2709+997C>T | XP_011542387.1:n.2709+997C>T | |
| XM_011544086.1:c.2709+997C>T | XP_011542388.1:n.2709+997C>T | |
| XM_011544088.1:c.2253+997C>T | XP_011542390.1:n.2253+997C>T | |
| XM_011544089.1:c.2199+997C>T | XP_011542391.1:n.2199+997C>T | |
| XM_011544090.1:c.2199+997C>T | XP_011542392.1:n.2199+997C>T | |
| XM_006711736.3:c.3192+997C>T | XP_006711799.1:n.3192+997C>T | |
| XM_011544086.3:c.2709+997C>T | XP_011542388.1:n.2709+997C>T | |
| XM_017000315.1:c.2940+997C>T | XP_016855804.1:n.2940+997C>T | |
| NM_001367482.1:c.3192+997C>T MANE Select | NP_001354411.1:n.3192+997C>T |