Linked Data
ClinVar Variation Id:
2839408
ClinVar RCV Id:
RCV003625650
dbSNP Id:
rs755146302
ExAC:
11:2187907 G / A
gnomAD v2:
11-2187907-G-A
gnomAD v3:
11-2166677-G-A
gnomAD v4:
11-2166677-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166677G>A , CM000673.2:g.2166677G>A | GRCh38 |
| NC_000011.9:g.2187907G>A , CM000673.1:g.2187907G>A | GRCh37 |
| NC_000011.8:g.2144483G>A | NCBI36 |
| NG_008128.1:g.10129C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.933C>T MANE Select | ENSP00000325951.4:p.Thr311= | |
| ENST00000324155.8:c.*622C>T | ENSP00000325831.3:n.*622C>T | |
| ENST00000333684.9:c.696-128C>T | ENSP00000328814.6:n.696-128C>T | |
| ENST00000352909.7:c.933C>T | ENSP00000325951.3:p.Thr311= | |
| ENST00000381168.7:c.*653C>T | ENSP00000370560.3:n.*653C>T | |
| ENST00000381175.5:c.1014C>T | ENSP00000370567.1:p.Thr338= | |
| ENST00000381178.5:c.1026C>T | ENSP00000370571.1:p.Thr342= | |
| ENST00000412076.1:c.136-128C>T | ||
| ENST00000416223.5:c.227C>T | ||
| ENST00000461172.1:n.98C>T | ||
| ENST00000479437.5:n.482C>T | ||
| NM_000360.3:c.933C>T | NP_000351.2:p.Thr311= | |
| NM_199292.2:c.1026C>T | NP_954986.2:p.Thr342= | |
| NM_199293.2:c.1014C>T | NP_954987.2:p.Thr338= | |
| XM_011520335.1:c.945C>T | XP_011518637.1:p.Thr315= | |
| XM_011520335.2:c.945C>T | XP_011518637.1:p.Thr315= | |
| NM_000360.4:c.933C>T MANE Select | NP_000351.2:p.Thr311= | |
| NM_199292.3:c.1026C>T | NP_954986.2:p.Thr342= | |
| NM_199293.3:c.1014C>T | NP_954987.2:p.Thr338= |