Linked Data
dbSNP Id:
rs45430
gnomAD v2:
21-42746081-C-T
gnomAD v3:
21-41374154-C-T
gnomAD v4:
21-41374154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41374154C>T , CM000683.2:g.41374154C>T | GRCh38 |
| NC_000021.8:g.42746081C>T , CM000683.1:g.42746081C>T | GRCh37 |
| NC_000021.7:g.41667951C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330714.8:c.-71-2682C>T MANE Select | ENSP00000333657.3:n.-71-2682C>T | |
| ENST00000418103.2:c.-71-2682C>T | ENSP00000410188.2:n.-71-2682C>T | |
| ENST00000435611.6:c.-71-2682C>T | ENSP00000389256.2:n.-71-2682C>T | |
| ENST00000680862.1:c.-71-2682C>T | ENSP00000506423.1:n.-71-2682C>T | |
| ENST00000330714.7:c.-71-2682C>T | ENSP00000333657.3:n.-71-2682C>T | |
| ENST00000416447.1:c.-72+27C>T | ENSP00000411179.1:n.-72+27C>T | |
| ENST00000418103.1:c.-71-2682C>T | ENSP00000410188.1:n.-71-2682C>T | |
| ENST00000435611.5:c.-71-2682C>T | ENSP00000389256.1:n.-71-2682C>T | |
| ENST00000436410.5:c.-72+1155C>T | ENSP00000393975.1:n.-72+1155C>T | |
| NM_002463.1:c.-71-2682C>T | NP_002454.1:n.-71-2682C>T | |
| XM_005260983.3:c.-71-2682C>T | XP_005261040.1:n.-71-2682C>T | |
| XM_005260984.1:c.-71-2682C>T | XP_005261041.1:n.-71-2682C>T | |
| XM_011529571.1:c.-72+1155C>T | XP_011527873.1:n.-72+1155C>T | |
| XM_011529572.1:c.-72+27C>T | XP_011527874.1:n.-72+27C>T | |
| XM_011529573.1:c.-71-2682C>T | XP_011527875.1:n.-71-2682C>T | |
| XM_005260983.5:c.-71-2682C>T | XP_005261040.1:n.-71-2682C>T | |
| XM_011529572.2:c.-72+27C>T | XP_011527874.1:n.-72+27C>T | |
| XM_011529573.2:c.-71-2682C>T | XP_011527875.1:n.-71-2682C>T | |
| XM_024452080.1:c.-71-2682C>T | XP_024307848.1:n.-71-2682C>T | |
| NM_002463.2:c.-71-2682C>T MANE Select | NP_002454.1:n.-71-2682C>T |