Linked Data
ClinVar Variation Id:
2387901
ClinVar RCV Id:
RCV004224763
dbSNP Id:
rs746771939
ExAC:
2:112917406 C / T
gnomAD v2:
2-112917406-C-T
gnomAD v3:
2-112159829-C-T
gnomAD v4:
2-112159829-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112159829C>T , CM000664.2:g.112159829C>T | GRCh38 |
| NC_000002.11:g.112917406C>T , CM000664.1:g.112917406C>T | GRCh37 |
| NC_000002.10:g.112633877C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331203.7:c.229C>T MANE Select | ENSP00000331411.2:p.Leu77Phe | |
| ENST00000331203.6:c.229C>T | ENSP00000331411.2:p.Leu77Phe | |
| ENST00000409450.7:c.229C>T | ENSP00000387000.3:p.Leu77Phe | |
| ENST00000409667.7:c.229C>T | ENSP00000386822.3:p.Leu77Phe | |
| ENST00000409903.5:c.229C>T | ENSP00000386295.1:p.Leu77Phe | |
| ENST00000441565.5:c.82C>T | ENSP00000388025.1:p.Leu28Phe | |
| ENST00000472377.1:n.2114C>T | ||
| NM_001128165.1:c.229C>T | NP_001121637.1:p.Leu77Phe | |
| NM_153214.2:c.229C>T | NP_694946.2:p.Leu77Phe | |
| XM_006712260.2:c.229C>T | XP_006712323.1:p.Leu77Phe | |
| XM_011510585.1:c.229C>T | XP_011508887.1:p.Leu77Phe | |
| XM_011510586.1:c.229C>T | XP_011508888.1:p.Leu77Phe | |
| XM_011510587.1:c.58C>T | XP_011508889.1:p.Leu20Phe | |
| XM_006712260.3:c.229C>T | XP_006712323.1:p.Leu77Phe | |
| XM_011510585.2:c.229C>T | XP_011508887.1:p.Leu77Phe | |
| XM_011510587.2:c.58C>T | XP_011508889.1:p.Leu20Phe | |
| XM_017003317.1:c.229C>T | XP_016858806.1:p.Leu77Phe | |
| XM_017003319.1:c.229C>T | XP_016858808.1:p.Leu77Phe | |
| XM_024452686.1:c.58C>T | XP_024308454.1:p.Leu20Phe | |
| XR_001738613.1:n.500C>T | ||
| XR_001738614.2:n.500C>T | ||
| XR_001738615.1:n.500C>T | ||
| XR_001738616.1:n.500C>T | ||
| XR_001738617.1:n.500C>T | ||
| XR_001738618.2:n.500C>T | ||
| NM_153214.3:c.229C>T MANE Select | NP_694946.2:p.Leu77Phe | |
| NM_001128165.2:c.229C>T | NP_001121637.1:p.Leu77Phe |