Linked Data
ClinVar Variation Id:
1179703
dbSNP Id:
rs753372554
ExAC:
4:996085 T / G
gnomAD v2:
4-996085-T-G
gnomAD v3:
4-1002297-T-G
gnomAD v4:
4-1002297-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002297T>G , CM000666.2:g.1002297T>G | GRCh38 |
| NC_000004.11:g.996085T>G , CM000666.1:g.996085T>G | GRCh37 |
| NC_000004.10:g.986085T>G | NCBI36 |
| NG_008103.1:g.20301T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1001T>G | ENSP00000247933.4:p.Leu334Arg | |
| ENST00000514224.2:c.1001T>G MANE Select | ENSP00000425081.2:p.Leu334Arg | |
| ENST00000652070.1:n.1057T>G | ||
| ENST00000247933.8:c.1001T>G | ENSP00000247933.4:p.Leu334Arg | |
| ENST00000514224.1:c.605T>G | ENSP00000425081.1:p.Leu202Arg | |
| ENST00000514698.5:n.1108T>G | ||
| NM_000203.4:c.1001T>G | NP_000194.2:p.Leu334Arg | |
| NR_110313.1:n.1089T>G | ||
| XM_006713882.2:c.605T>G | XP_006713945.1:p.Leu202Arg | |
| XM_011513459.1:c.1067T>G | XP_011511761.1:p.Leu356Arg | |
| XM_011513460.1:c.860T>G | XP_011511762.1:p.Leu287Arg | |
| XM_011513461.1:c.794T>G | XP_011511763.1:p.Leu265Arg | |
| XM_011513462.1:c.713T>G | XP_011511764.1:p.Leu238Arg | |
| XM_011513463.1:c.713T>G | XP_011511765.1:p.Leu238Arg | |
| XR_924947.1:n.1070T>G | ||
| NM_000203.5:c.1001T>G MANE Select | NP_000194.2:p.Leu334Arg | |
| NM_001363576.1:c.605T>G | NP_001350505.1:p.Leu202Arg | |
| XM_011513461.2:c.794T>G | XP_011511763.1:p.Leu265Arg | |
| XM_017008163.1:c.41T>G | XP_016863652.1:p.Leu14Arg |