Linked Data
ClinVar Variation Id:
305779
ClinVar RCV Id:
RCV000299111
dbSNP Id:
rs200201422
ExAC:
11:67808732 C / T
gnomAD v2:
11-67808732-C-T
gnomAD v3:
11-68041265-C-T
gnomAD v4:
11-68041265-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68041265C>T , CM000673.2:g.68041265C>T | GRCh38 |
| NC_000011.9:g.67808732C>T , CM000673.1:g.67808732C>T | GRCh37 |
| NC_000011.8:g.67565308C>T | NCBI36 |
| NG_007878.1:g.7250C>T , LRG_115:g.7250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.-4-3C>T | ENSP00000513629.1:n.-4-3C>T | |
| ENST00000698255.1:c.-4-3C>T | ENSP00000513630.1:n.-4-3C>T | |
| ENST00000265686.8:c.-4-3C>T MANE Select | ENSP00000265686.3:n.-4-3C>T | |
| ENST00000265686.7:c.-4-3C>T | ENSP00000265686.3:n.-4-3C>T | |
| ENST00000524598.5:c.-4-3C>T | ENSP00000432846.1:n.-4-3C>T | |
| ENST00000529657.1:c.-4-3C>T | ENSP00000435023.1:n.-4-3C>T | |
| ENST00000533947.1:n.6-3C>T | ||
| ENST00000534673.5:c.-4-3C>T | ENSP00000431174.1:n.-4-3C>T | |
| NM_006019.3:c.-4-3C>T | NP_006010.2:n.-4-3C>T | |
| XM_005273709.2:c.-4-3C>T | XP_005273766.1:n.-4-3C>T | |
| XM_011544726.1:c.-4-3C>T | XP_011543028.1:n.-4-3C>T | |
| NM_001351059.1:c.-1253-3C>T | NP_001337988.1:n.-1253-3C>T | |
| XM_024448320.1:c.-4-3C>T | XP_024304088.1:n.-4-3C>T | |
| XM_024448321.1:c.-4-3C>T | XP_024304089.1:n.-4-3C>T | |
| XM_024448322.1:c.-4-3C>T | XP_024304090.1:n.-4-3C>T | |
| XM_024448323.1:c.-4-3C>T | XP_024304091.1:n.-4-3C>T | |
| XM_024448324.1:c.-4-3C>T | XP_024304092.1:n.-4-3C>T | |
| XR_001747721.2:n.121-3C>T | ||
| XR_001747722.1:n.118-3C>T | ||
| XR_001747723.2:n.118-3C>T | ||
| XR_002957115.1:n.119-3C>T | ||
| NM_006019.4:c.-4-3C>T MANE Select | NP_006010.2:n.-4-3C>T | |
| NM_001351059.2:c.-1253-3C>T | NP_001337988.1:n.-1253-3C>T |