Linked Data
gnomAD v4:
13-32315489-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315489G>T , CM000675.2:g.32315489G>T | GRCh38 |
| NC_000013.10:g.32889626G>T , CM000675.1:g.32889626G>T | GRCh37 |
| NC_000013.9:g.31787626G>T | NCBI36 |
| NG_012772.3:g.5010G>T , LRG_293:g.5010G>T | |
| NG_017006.1:g.1466C>A | |
| NG_017006.2:g.4875C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+344G>T | ENSP00000439902.1:n.-40+344G>T | |
| ENST00000380152.7:c.-218G>T | ENSP00000369497.3:n.-218G>T | |
| ENST00000544455.5:c.-218G>T | ENSP00000439902.1:n.-218G>T | |
| NM_000059.3:c.-218G>T , LRG_293t1:c.-218G>T | NP_000050.2:n.-218G>T | |
| XM_011535203.1:c.-40+344G>T | XP_011533505.1:n.-40+344G>T | |
| XM_011535204.1:c.-218G>T | XP_011533506.1:n.-218G>T | |
| XM_011535205.1:c.-218G>T | XP_011533507.1:n.-218G>T |