Linked Data
ClinVar Variation Id:
392167
ClinVar RCV Id:
RCV000422847
dbSNP Id:
rs1057524379
gnomAD v4:
X-72351807-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72351807A>G , CM000685.2:g.72351807A>G | GRCh38 |
| NC_000023.10:g.71571657A>G , CM000685.1:g.71571657A>G | GRCh37 |
| NC_000023.9:g.71488382A>G | NCBI36 |
| NG_015851.1:g.226297T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373568.7:c.1037T>C | ENSP00000362669.3:p.Leu346Pro | |
| ENST00000373573.9:c.1037T>C MANE Select | ENSP00000362674.3:p.Leu346Pro | |
| ENST00000373583.6:c.959T>C | ENSP00000362685.2:p.Leu320Pro | |
| ENST00000373589.9:c.764T>C | ENSP00000362691.4:p.Leu255Pro | |
| ENST00000436675.6:c.*292T>C | ENSP00000416489.1:n.*292T>C | |
| ENST00000470998.2:c.214T>C | ||
| ENST00000647594.1:c.1037T>C | ENSP00000496814.1:p.Leu346Pro | |
| ENST00000647606.1:c.812T>C | ||
| ENST00000647613.1:c.*790T>C | ENSP00000497911.1:n.*790T>C | |
| ENST00000647641.1:n.1124T>C | ||
| ENST00000647654.1:c.764T>C | ENSP00000497568.1:p.Leu255Pro | |
| ENST00000647859.1:c.1037T>C | ENSP00000497530.1:p.Leu346Pro | |
| ENST00000647886.1:c.1037T>C | ENSP00000497188.1:p.Leu346Pro | |
| ENST00000647980.1:c.1031T>C | ENSP00000498002.1:p.Leu344Pro | |
| ENST00000648139.1:c.737T>C | ENSP00000496818.1:p.Leu246Pro | |
| ENST00000648276.1:c.421T>C | ENSP00000497619.1:p.Trp141Arg | |
| ENST00000648452.1:c.1037T>C | ENSP00000497268.1:p.Leu346Pro | |
| ENST00000648459.1:c.434T>C | ENSP00000498072.1:p.Leu145Pro | |
| ENST00000648504.1:c.978T>C | ENSP00000497668.1:n.978T>C | |
| ENST00000648711.1:c.666T>C | ENSP00000498040.1:n.666T>C | |
| ENST00000648731.1:c.1143T>C | ||
| ENST00000648834.1:c.*117T>C | ENSP00000497764.1:n.*117T>C | |
| ENST00000648850.1:c.676T>C | ||
| ENST00000648855.1:n.961T>C | ||
| ENST00000648922.1:c.1037T>C | ENSP00000497072.1:p.Leu346Pro | |
| ENST00000648939.1:c.*117T>C | ENSP00000497442.1:n.*117T>C | |
| ENST00000649097.1:c.1037T>C | ENSP00000497551.1:p.Leu346Pro | |
| ENST00000649181.1:c.*399T>C | ENSP00000498150.1:n.*399T>C | |
| ENST00000649274.1:c.975T>C | ENSP00000497032.1:n.975T>C | |
| ENST00000649543.1:c.*641T>C | ENSP00000496826.1:n.*641T>C | |
| ENST00000650076.1:c.394T>C | ||
| ENST00000650471.1:c.*481T>C | ENSP00000498027.1:n.*481T>C | |
| ENST00000650604.1:c.464T>C | ENSP00000497105.1:p.Leu155Pro | |
| ENST00000373573.7:c.1037T>C | ENSP00000362674.3:p.Leu346Pro | |
| ENST00000373583.5:c.165-22098T>C | ENSP00000362685.1:n.165-22098T>C | |
| ENST00000373589.8:c.764T>C | ENSP00000362691.4:p.Leu255Pro | |
| ENST00000470998.1:n.210T>C | ||
| NM_001166418.1:c.764T>C | NP_001159890.1:p.Leu255Pro | |
| NM_018486.2:c.1037T>C | NP_060956.1:p.Leu346Pro | |
| NR_051952.1:n.1237T>C | ||
| XM_011530986.1:c.1037T>C | XP_011529288.1:p.Leu346Pro | |
| XR_938402.1:n.1123T>C | ||
| XM_011530986.3:c.1037T>C | XP_011529288.3:p.Leu346Pro | |
| XM_017029640.2:c.959T>C | XP_016885129.2:p.Leu320Pro | |
| XM_017029641.2:c.959T>C | XP_016885130.2:p.Leu320Pro | |
| XM_017029642.1:c.878T>C | XP_016885131.1:p.Leu293Pro | |
| XM_017029643.2:c.851T>C | XP_016885132.1:p.Leu284Pro | |
| XM_017029644.2:c.800T>C | XP_016885133.1:p.Leu267Pro | |
| XM_017029645.2:c.851T>C | XP_016885134.1:p.Leu284Pro | |
| XM_017029646.1:c.650T>C | XP_016885135.1:p.Leu217Pro | |
| XM_024452405.1:c.452T>C | XP_024308173.1:p.Leu151Pro | |
| XR_001755711.2:n.1123T>C | ||
| XR_002958779.1:n.1219T>C | ||
| XR_002958780.1:n.1127T>C | ||
| XR_002958781.1:n.1127T>C | ||
| XR_002958783.1:n.1103T>C | ||
| XR_938402.3:n.1123T>C | ||
| NM_018486.3:c.1037T>C MANE Select | NP_060956.1:p.Leu346Pro | |
| NM_001166418.2:c.764T>C | NP_001159890.1:p.Leu255Pro | |
| NR_051952.2:n.977T>C |