Linked Data
ClinVar Variation Id:
316902
dbSNP Id:
rs2278670
gnomAD v2:
15-67484297-C-T
gnomAD v3:
15-67191959-C-T
gnomAD v4:
15-67191959-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67191959C>T , CM000677.2:g.67191959C>T | GRCh38 |
| NC_000015.9:g.67484297C>T , CM000677.1:g.67484297C>T | GRCh37 |
| NC_000015.8:g.65271351C>T | NCBI36 |
| NG_011990.1:g.131103C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558739.2:c.*1423C>T | ENSP00000453684.2:n.*1423C>T | |
| ENST00000559460.6:c.*1423C>T | ENSP00000453082.2:n.*1423C>T | |
| ENST00000327367.9:c.*1423C>T MANE Select | ENSP00000332973.4:n.*1423C>T | |
| ENST00000679624.1:c.*1423C>T | ENSP00000505445.1:n.*1423C>T | |
| ENST00000681239.1:c.*1423C>T | ENSP00000505641.1:n.*1423C>T | |
| ENST00000327367.8:c.*1423C>T | ENSP00000332973.4:n.*1423C>T | |
| ENST00000560402.1:n.283-914C>T | ||
| NM_001145102.1:c.*1423C>T | NP_001138574.1:n.*1423C>T | |
| NM_001145103.1:c.*1423C>T | NP_001138575.1:n.*1423C>T | |
| NM_001145104.1:c.*1423C>T | NP_001138576.1:n.*1423C>T | |
| NM_005902.3:c.*1423C>T | NP_005893.1:n.*1423C>T | |
| XM_011521559.1:c.*1423C>T | XP_011519861.1:n.*1423C>T | |
| XM_011521560.1:c.*1423C>T | XP_011519862.1:n.*1423C>T | |
| XM_011521559.3:c.*1423C>T | XP_011519861.1:n.*1423C>T | |
| NM_005902.4:c.*1423C>T MANE Select | NP_005893.1:n.*1423C>T | |
| NM_001145102.2:c.*1423C>T | NP_001138574.1:n.*1423C>T | |
| NM_001145103.2:c.*1423C>T | NP_001138575.1:n.*1423C>T | |
| NM_001145104.2:c.*1423C>T | NP_001138576.1:n.*1423C>T |