Linked Data
ClinVar Variation Id:
30716
ClinVar RCV Id:
RCV001777145
dbSNP Id:
rs10065172
ExAC:
5:150227998 C / T
gnomAD v2:
5-150227998-C-T
gnomAD v3:
5-150848436-C-T
gnomAD v4:
5-150848436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150848436C>T , CM000667.2:g.150848436C>T | GRCh38 |
| NC_000005.9:g.150227998C>T , CM000667.1:g.150227998C>T | GRCh37 |
| NC_000005.8:g.150208191C>T | NCBI36 |
| NG_027809.1:g.6914C>T | |
| NG_027809.2:g.6914C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000522154.2:c.313C>T MANE Select | ENSP00000428220.1:p.Leu105= | |
| ENST00000522154.1:c.313C>T | ENSP00000428220.1:p.Leu105= | |
| NM_001145805.1:c.313C>T | NP_001139277.1:p.Leu105= | |
| XM_011537641.1:c.313C>T | XP_011535943.1:p.Leu105= | |
| NM_001346557.1:c.313C>T | NP_001333486.1:p.Leu105= | |
| NM_001346557.2:c.313C>T | NP_001333486.1:p.Leu105= | |
| NM_001145805.2:c.313C>T MANE Select | NP_001139277.1:p.Leu105= | |
| NR_170598.1:n.1428C>T |