Linked Data
ClinVar Variation Id:
541218
dbSNP Id:
rs145315273
ExAC:
6:112441579 C / G
gnomAD v2:
6-112441579-C-G
gnomAD v3:
6-112120376-C-G
gnomAD v4:
6-112120376-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112120376C>G , CM000668.2:g.112120376C>G | GRCh38 |
| NC_000006.11:g.112441579C>G , CM000668.1:g.112441579C>G | GRCh37 |
| NC_000006.10:g.112548272C>G | NCBI36 |
| NG_008209.1:g.139250G>C , LRG_433:g.139250G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230538.12:c.4572G>C MANE Select | ENSP00000230538.7:p.Leu1524Phe | |
| ENST00000389463.9:c.4551G>C | ENSP00000374114.4:p.Leu1517Phe | |
| ENST00000651529.1:c.590G>C | ||
| ENST00000651860.1:c.2295G>C | ENSP00000498842.1:p.Leu765Phe | |
| ENST00000230538.11:c.4572G>C | ENSP00000230538.7:p.Leu1524Phe | |
| ENST00000389463.8:c.4551G>C | ENSP00000374114.4:p.Leu1517Phe | |
| ENST00000424408.6:c.4551G>C | ENSP00000416470.2:p.Leu1517Phe | |
| ENST00000522006.5:c.4551G>C | ENSP00000429488.1:p.Leu1517Phe | |
| NM_001105206.2:c.4572G>C | NP_001098676.2:p.Leu1524Phe | |
| NM_001105207.2:c.4551G>C | NP_001098677.2:p.Leu1517Phe | |
| NM_002290.4:c.4551G>C | NP_002281.3:p.Leu1517Phe | |
| XM_005266983.3:c.4572G>C | XP_005267040.2:p.Leu1524Phe | |
| XM_005266984.3:c.4572G>C | XP_005267041.2:p.Leu1524Phe | |
| XM_005266983.4:c.4572G>C | XP_005267040.2:p.Leu1524Phe | |
| XM_005266984.4:c.4572G>C | XP_005267041.2:p.Leu1524Phe | |
| XM_017010854.2:c.4551G>C | XP_016866343.1:p.Leu1517Phe | |
| XR_001743406.2:n.4709G>C | ||
| XR_001743407.2:n.4688G>C | ||
| XR_001744299.1:n.428+3949C>G | ||
| NM_001105206.3:c.4572G>C MANE Select | NP_001098676.2:p.Leu1524Phe | |
| NM_001105207.3:c.4551G>C | NP_001098677.2:p.Leu1517Phe | |
| NM_002290.5:c.4551G>C | NP_002281.3:p.Leu1517Phe |