Linked Data
ClinVar Variation Id:
2806836
ClinVar RCV Id:
RCV003627763
MyVariant Identifiers:
chr16:g.30767718C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756397C>T , CM000678.2:g.30756397C>T | GRCh38 |
| NC_000016.9:g.30767718C>T , CM000678.1:g.30767718C>T | GRCh37 |
| NC_000016.8:g.30675219C>T | NCBI36 |
| NG_016616.1:g.13099C>T | |
| NG_016616.2:g.13099C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563588.6:c.678C>T MANE Select | ENSP00000455607.1:p.Leu226= | |
| ENST00000328273.11:c.690C>T | ENSP00000329968.7:p.Leu230= | |
| ENST00000424889.7:c.678C>T | ENSP00000388571.3:p.Leu226= | |
| ENST00000563588.5:c.678C>T | ENSP00000455607.1:p.Leu226= | |
| ENST00000563913.5:n.1011C>T | ||
| ENST00000564838.5:n.931-193C>T | ||
| ENST00000565897.5:c.678C>T | ENSP00000457359.1:p.Leu226= | |
| ENST00000565924.5:c.678C>T | ENSP00000455091.1:p.Leu226= | |
| ENST00000569684.1:n.1102C>T | ||
| NM_000294.2:c.678C>T | NP_000285.1:p.Leu226= | |
| NM_001172432.1:c.678C>T | NP_001165903.1:p.Leu226= | |
| NM_000294.3:c.678C>T MANE Select | NP_000285.1:p.Leu226= | |
| NM_001172432.2:c.678C>T | NP_001165903.1:p.Leu226= |