Linked Data
ClinVar Variation Id:
498677
dbSNP Id:
rs767987790
ExAC:
2:61258768 C / T
gnomAD v2:
2-61258768-C-T
gnomAD v3:
2-61031633-C-T
gnomAD v4:
2-61031633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031633C>T , CM000664.2:g.61031633C>T | GRCh38 |
| NC_000002.11:g.61258768C>T , CM000664.1:g.61258768C>T | GRCh37 |
| NC_000002.10:g.61112272C>T | NCBI36 |
| NG_008665.1:g.18957C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.307C>T MANE Select | ENSP00000295030.4:p.Leu103= | |
| ENST00000295030.5:c.307C>T | ENSP00000295030.4:p.Leu103= | |
| ENST00000472678.1:n.370C>T | ||
| NM_002618.3:c.307C>T | NP_002609.1:p.Leu103= | |
| XM_011532904.1:c.190C>T | XP_011531206.1:p.Leu64= | |
| NM_002618.4:c.307C>T MANE Select | NP_002609.1:p.Leu103= |