Linked Data
ClinVar Variation Id:
1908019
ClinVar RCV Id:
RCV002581236
dbSNP Id:
rs1232295347
MyVariant Identifiers:
chr11:g.118373954T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503239T>C , CM000673.2:g.118503239T>C | GRCh38 |
| NC_000011.9:g.118373954T>C , CM000673.1:g.118373954T>C | GRCh37 |
| NC_000011.8:g.117879164T>C | NCBI36 |
| NG_027813.1:g.71750T>C , LRG_613:g.71750T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7446T>C | ENSP00000432391.3:p.Phe2482= | |
| ENST00000710560.1:c.7437T>C | ENSP00000518343.1:p.Phe2479= | |
| ENST00000649878.2:c.1386T>C | ENSP00000497891.2:p.Phe462= | |
| ENST00000685397.1:c.1386T>C | ENSP00000509586.1:p.Phe462= | |
| ENST00000686370.1:c.1386T>C | ENSP00000509179.1:p.Phe462= | |
| ENST00000689424.1:c.1644T>C | ENSP00000509852.1:p.Phe548= | |
| ENST00000691053.1:c.7419T>C | ENSP00000509168.1:p.Phe2473= | |
| ENST00000389506.10:c.7338T>C | ENSP00000374157.5:p.Phe2446= | |
| ENST00000528278.2:n.6689T>C | ||
| ENST00000534358.8:c.7347T>C MANE Select | ENSP00000436786.2:p.Phe2449= | |
| ENST00000649699.1:c.7224T>C | ENSP00000496927.1:p.Phe2408= | |
| ENST00000389506.9:c.7338T>C | ENSP00000374157.5:p.Phe2446= | |
| ENST00000528278.1:n.1474T>C | ||
| ENST00000534358.5:c.7347T>C | ENSP00000436786.1:p.Phe2449= | |
| NM_001197104.1:c.7347T>C , LRG_613t1:c.7347T>C | NP_001184033.1:p.Phe2449= | |
| NM_005933.3:c.7338T>C | NP_005924.2:p.Phe2446= | |
| XM_006718839.2:c.4830T>C | XP_006718902.2:p.Phe1610= | |
| XM_011542829.1:c.7446T>C | XP_011541131.1:p.Phe2482= | |
| XM_011542830.1:c.7443T>C | XP_011541132.1:p.Phe2481= | |
| XM_011542831.1:c.7437T>C | XP_011541133.1:p.Phe2479= | |
| XM_011542832.1:c.5253T>C | XP_011541134.1:p.Phe1751= | |
| XM_011542833.1:c.4929T>C | XP_011541135.1:p.Phe1643= | |
| XM_006718839.3:c.4830T>C | XP_006718902.2:p.Phe1610= | |
| XM_011542829.2:c.7446T>C | XP_011541131.1:p.Phe2482= | |
| XM_011542830.2:c.7443T>C | XP_011541132.1:p.Phe2481= | |
| XM_011542831.2:c.7437T>C | XP_011541133.1:p.Phe2479= | |
| XM_011542833.2:c.4929T>C | XP_011541135.1:p.Phe1643= | |
| NM_001197104.2:c.7347T>C MANE Select | NP_001184033.1:p.Phe2449= | |
| NM_005933.4:c.7338T>C | NP_005924.2:p.Phe2446= |