Linked Data
ClinVar Variation Id:
48496
dbSNP Id:
rs375083165
ExAC:
1:216595366 G / A
gnomAD v2:
1-216595366-G-A
gnomAD v3:
1-216422024-G-A
gnomAD v4:
1-216422024-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216422024G>A , CM000663.2:g.216422024G>A | GRCh38 |
| NC_000001.10:g.216595366G>A , CM000663.1:g.216595366G>A | GRCh37 |
| NC_000001.9:g.214661989G>A | NCBI36 |
| NG_009497.1:g.6373C>T | |
| NG_009497.2:g.6425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.313C>T MANE Select | ENSP00000305941.3:p.Leu105Phe | |
| ENST00000674083.1:c.313C>T | ENSP00000501296.1:p.Leu105Phe | |
| ENST00000307340.7:c.313C>T | ENSP00000305941.3:p.Leu105Phe | |
| ENST00000366942.3:c.313C>T | ENSP00000355909.3:p.Leu105Phe | |
| NM_007123.5:c.313C>T | NP_009054.5:p.Leu105Phe | |
| NM_206933.2:c.313C>T | NP_996816.2:p.Leu105Phe | |
| NM_206933.3:c.313C>T | NP_996816.2:p.Leu105Phe | |
| NM_007123.6:c.313C>T | NP_009054.6:p.Leu105Phe | |
| NM_206933.4:c.313C>T MANE Select | NP_996816.3:p.Leu105Phe |