Linked Data
ClinVar Variation Id:
2918684
ClinVar RCV Id:
RCV003753856
gnomAD v4:
16-56334733-C-T
MyVariant Identifiers:
chr16:g.56368645C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56334733C>T , CM000678.2:g.56334733C>T | GRCh38 |
| NC_000016.9:g.56368645C>T , CM000678.1:g.56368645C>T | GRCh37 |
| NC_000016.8:g.54926146C>T | NCBI36 |
| NG_042800.1:g.148395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.469C>T | ENSP00000262494.7:p.Leu157= | |
| ENST00000262493.12:c.469C>T MANE Select | ENSP00000262493.6:p.Leu157= | |
| ENST00000262494.12:c.469C>T | ENSP00000262494.7:p.Leu157= | |
| ENST00000562316.6:c.136C>T | ENSP00000457238.2:p.Leu46= | |
| ENST00000638185.1:n.684C>T | ||
| ENST00000638210.1:n.769C>T | ||
| ENST00000638705.1:c.469C>T | ENSP00000491223.1:p.Leu157= | |
| ENST00000638836.1:n.379C>T | ||
| ENST00000639055.1:n.1190C>T | ||
| ENST00000639251.1:n.370C>T | ||
| ENST00000639268.1:c.229-1998C>T | ||
| ENST00000639770.1:c.507C>T | ENSP00000491999.1:n.507C>T | |
| ENST00000640390.1:n.399C>T | ||
| ENST00000640893.1:c.308C>T | ENSP00000492677.1:p.Pro103Leu | |
| ENST00000262493.10:c.469C>T | ENSP00000262493.6:p.Leu157= | |
| ENST00000262494.11:c.469C>T | ENSP00000262494.7:p.Leu157= | |
| ENST00000562316.5:c.208C>T | ENSP00000457238.1:p.Leu70= | |
| ENST00000563440.1:c.208C>T | ENSP00000455774.1:p.Leu70= | |
| ENST00000565363.5:c.343C>T | ENSP00000454728.1:p.Leu115= | |
| NM_020988.2:c.469C>T | NP_066268.1:p.Leu157= | |
| NM_138736.2:c.469C>T | NP_620073.2:p.Leu157= | |
| XM_011523003.1:c.343C>T | XP_011521305.1:p.Leu115= | |
| XM_011523003.3:c.343C>T | XP_011521305.1:p.Leu115= | |
| NM_020988.3:c.469C>T MANE Select | NP_066268.1:p.Leu157= | |
| NM_138736.3:c.469C>T | NP_620073.2:p.Leu157= |