Linked Data
ClinVar Variation Id:
315741
ClinVar RCV Id:
RCV001813465
dbSNP Id:
rs145373657
gnomAD v2:
15-38644121-C-T
gnomAD v3:
15-38351920-C-T
gnomAD v4:
15-38351920-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351920C>T , CM000677.2:g.38351920C>T | GRCh38 |
| NC_000015.9:g.38644121C>T , CM000677.1:g.38644121C>T | GRCh37 |
| NC_000015.8:g.36431413C>T | NCBI36 |
| NG_008980.1:g.104070C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.*256C>T MANE Select | ENSP00000299084.4:n.*256C>T | |
| ENST00000299084.8:c.*256C>T | ENSP00000299084.4:n.*256C>T | |
| NM_152594.2:c.*256C>T | NP_689807.1:n.*256C>T | |
| XM_005254202.2:c.*256C>T | XP_005254259.1:n.*256C>T | |
| XM_005254203.3:c.*256C>T | XP_005254260.1:n.*256C>T | |
| XM_011521288.1:c.*256C>T | XP_011519590.1:n.*256C>T | |
| XM_011521289.1:c.*256C>T | XP_011519591.1:n.*256C>T | |
| XM_011521290.1:c.*256C>T | XP_011519592.1:n.*256C>T | |
| XM_005254202.3:c.*256C>T | XP_005254259.1:n.*256C>T | |
| XM_011521289.3:c.*256C>T | XP_011519591.1:n.*256C>T | |
| NM_152594.3:c.*256C>T MANE Select | NP_689807.1:n.*256C>T |