Linked Data
ClinVar Variation Id:
285288
dbSNP Id:
rs144590904
ExAC:
4:100542308 G / C
gnomAD v2:
4-100542308-G-C
gnomAD v3:
4-99621151-G-C
gnomAD v4:
4-99621151-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99621151G>C , CM000666.2:g.99621151G>C | GRCh38 |
| NC_000004.11:g.100542308G>C , CM000666.1:g.100542308G>C | GRCh37 |
| NC_000004.10:g.100761331G>C | NCBI36 |
| NG_011469.1:g.62069G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.2433G>C MANE Select | ENSP00000265517.5:p.Leu811Phe | |
| ENST00000457717.6:c.2433G>C | ENSP00000400821.1:p.Leu811Phe | |
| ENST00000511045.6:c.2184G>C | ENSP00000427679.2:p.Leu728Phe | |
| ENST00000265517.9:c.2433G>C | ENSP00000265517.5:p.Leu811Phe | |
| ENST00000457717.5:c.2433G>C | ENSP00000400821.1:p.Leu811Phe | |
| ENST00000511045.5:c.2514G>C | ENSP00000427679.1:p.Leu838Phe | |
| ENST00000619629.1:c.*880G>C | ENSP00000482850.1:n.*880G>C | |
| NM_000253.3:c.2433G>C | NP_000244.2:p.Leu811Phe | |
| NM_001300785.1:c.2514G>C | NP_001287714.1:p.Leu838Phe | |
| NM_000253.4:c.2433G>C | NP_000244.2:p.Leu811Phe | |
| NM_001300785.2:c.2184G>C | NP_001287714.2:p.Leu728Phe | |
| NM_001386140.1:c.2433G>C MANE Select | NP_001373069.1:p.Leu811Phe |