Linked Data
ClinVar Variation Id:
1596430
dbSNP Id:
rs2152144131
MyVariant Identifiers:
chr16:g.68867337T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833434T>C , CM000678.2:g.68833434T>C | GRCh38 |
| NC_000016.9:g.68867337T>C , CM000678.1:g.68867337T>C | GRCh37 |
| NC_000016.8:g.67424838T>C | NCBI36 |
| NG_008021.1:g.101143T>C , LRG_301:g.101143T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2584T>C MANE Select | ENSP00000261769.4:p.Leu862= | |
| ENST00000261769.9:c.2584T>C | ENSP00000261769.4:p.Leu862= | |
| ENST00000422392.6:c.2401T>C | ENSP00000414946.2:p.Leu801= | |
| ENST00000562118.1:n.802T>C | ||
| ENST00000562836.5:n.2655T>C | ||
| ENST00000566510.5:c.*1250T>C | ENSP00000458139.1:n.*1250T>C | |
| ENST00000566612.5:c.*824T>C | ENSP00000454782.1:n.*824T>C | |
| ENST00000611625.4:c.2647T>C | ENSP00000481063.1:p.Leu883= | |
| ENST00000612417.4:c.1854-757T>C | ENSP00000478360.1:n.1854-757T>C | |
| ENST00000621016.4:c.1866-769T>C | ENSP00000480664.1:n.1866-769T>C | |
| NM_004360.3:c.2584T>C , LRG_301t1:c.2584T>C | NP_004351.1:p.Leu862= | |
| XM_011523488.1:c.1849T>C | XP_011521790.1:p.Leu617= | |
| XM_011523489.1:c.1849T>C | XP_011521791.1:p.Leu617= | |
| NM_001317184.1:c.2401T>C | NP_001304113.1:p.Leu801= | |
| NM_001317185.1:c.1036T>C | NP_001304114.1:p.Leu346= | |
| NM_001317186.1:c.619T>C | NP_001304115.1:p.Leu207= | |
| NM_004360.4:c.2584T>C | NP_004351.1:p.Leu862= | |
| NM_004360.5:c.2584T>C MANE Select | NP_004351.1:p.Leu862= | |
| NM_001317184.2:c.2401T>C | NP_001304113.1:p.Leu801= | |
| NM_001317185.2:c.1036T>C | NP_001304114.1:p.Leu346= | |
| NM_001317186.2:c.619T>C | NP_001304115.1:p.Leu207= |