Linked Data
gnomAD v4:
15-38253044-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253044G>T , CM000677.2:g.38253044G>T | GRCh38 |
| NC_000015.9:g.38545245G>T , CM000677.1:g.38545245G>T | GRCh37 |
| NC_000015.8:g.36332537G>T | NCBI36 |
| NG_008980.1:g.5194G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-142G>T MANE Select | ENSP00000299084.4:n.-142G>T | |
| ENST00000299084.8:c.-142G>T | ENSP00000299084.4:n.-142G>T | |
| ENST00000561205.1:n.197G>T | ||
| NM_152594.2:c.-142G>T | NP_689807.1:n.-142G>T | |
| XM_005254202.2:c.-142G>T | XP_005254259.1:n.-142G>T | |
| XM_005254203.3:c.-189G>T | XP_005254260.1:n.-189G>T | |
| XM_005254202.3:c.-142G>T | XP_005254259.1:n.-142G>T | |
| XR_001751484.1:n.87+523C>A | ||
| NM_152594.3:c.-142G>T MANE Select | NP_689807.1:n.-142G>T |