Linked Data
dbSNP Id:
rs1174122348
gnomAD v2:
15-98504155-C-T
gnomAD v3:
15-97960925-C-T
gnomAD v4:
15-97960925-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.97960925C>T , CM000677.2:g.97960925C>T | GRCh38 |
| NC_000015.9:g.98504155C>T , CM000677.1:g.98504155C>T | GRCh37 |
| NC_000015.8:g.96305159C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268042.7:c.64C>T MANE Select | ENSP00000268042.6:p.Leu22= | |
| ENST00000268042.6:c.64C>T | ENSP00000268042.6:p.Leu22= | |
| NM_183376.2:c.64C>T | NP_899232.2:p.Leu22= | |
| NM_183376.3:c.64C>T MANE Select | NP_899232.2:p.Leu22= |