Linked Data
ClinVar Variation Id:
350226
ClinVar RCV Id:
RCV000356974
dbSNP Id:
rs536381533
ExAC:
4:995791 A / C
gnomAD v2:
4-995791-A-C
gnomAD v3:
4-1002003-A-C
gnomAD v4:
4-1002003-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002003A>C , CM000666.2:g.1002003A>C | GRCh38 |
| NC_000004.11:g.995791A>C , CM000666.1:g.995791A>C | GRCh37 |
| NC_000004.10:g.985791A>C | NCBI36 |
| NG_008103.1:g.20007A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.814A>C | ENSP00000247933.4:p.Ile272Leu | |
| ENST00000514224.2:c.814A>C MANE Select | ENSP00000425081.2:p.Ile272Leu | |
| ENST00000652070.1:n.870A>C | ||
| ENST00000247933.8:c.814A>C | ENSP00000247933.4:p.Ile272Leu | |
| ENST00000502910.5:c.673A>C | ||
| ENST00000514192.5:c.631A>C | ENSP00000423685.1:p.Ile211Leu | |
| ENST00000514224.1:c.418A>C | ENSP00000425081.1:p.Ile140Leu | |
| ENST00000514698.5:n.814A>C | ||
| NM_000203.4:c.814A>C | NP_000194.2:p.Ile272Leu | |
| NR_110313.1:n.902A>C | ||
| XM_006713882.2:c.418A>C | XP_006713945.1:p.Ile140Leu | |
| XM_011513459.1:c.773A>C | XP_011511761.1:p.His258Pro | |
| XM_011513460.1:c.673A>C | XP_011511762.1:p.Ile225Leu | |
| XM_011513461.1:c.607A>C | XP_011511763.1:p.Ile203Leu | |
| XM_011513462.1:c.526A>C | XP_011511764.1:p.Ile176Leu | |
| XM_011513463.1:c.526A>C | XP_011511765.1:p.Ile176Leu | |
| XR_924947.1:n.883A>C | ||
| NM_000203.5:c.814A>C MANE Select | NP_000194.2:p.Ile272Leu | |
| NM_001363576.1:c.418A>C | NP_001350505.1:p.Ile140Leu | |
| XM_011513461.2:c.607A>C | XP_011511763.1:p.Ile203Leu | |
| XM_017008163.1:c.-147A>C | XP_016863652.1:n.-147A>C |