Linked Data
ClinVar Variation Id:
590105
dbSNP Id:
rs760476691
ExAC:
16:56370727 C / T
gnomAD v2:
16-56370727-C-T
gnomAD v3:
16-56336815-C-T
gnomAD v4:
16-56336815-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336815C>T , CM000678.2:g.56336815C>T | GRCh38 |
| NC_000016.9:g.56370727C>T , CM000678.1:g.56370727C>T | GRCh37 |
| NC_000016.8:g.54928228C>T | NCBI36 |
| NG_042800.1:g.150477C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.678C>T | ENSP00000262494.7:p.Val226= | |
| ENST00000262493.12:c.678C>T MANE Select | ENSP00000262493.6:p.Val226= | |
| ENST00000262494.12:c.678C>T | ENSP00000262494.7:p.Val226= | |
| ENST00000562316.6:c.345C>T | ENSP00000457238.2:p.Val115= | |
| ENST00000568375.2:c.70C>T | ||
| ENST00000638185.1:n.893C>T | ||
| ENST00000638210.1:n.978C>T | ||
| ENST00000638705.1:c.678C>T | ENSP00000491223.1:p.Val226= | |
| ENST00000638836.1:n.588C>T | ||
| ENST00000639055.1:n.1399C>T | ||
| ENST00000639251.1:n.579C>T | ||
| ENST00000639268.1:c.313C>T | ||
| ENST00000639341.1:c.203C>T | ||
| ENST00000639770.1:c.716C>T | ENSP00000491999.1:n.716C>T | |
| ENST00000640390.1:n.608C>T | ||
| ENST00000640469.1:c.42C>T | ENSP00000491875.1:p.Val14= | |
| ENST00000640560.1:n.454C>T | ||
| ENST00000640893.1:c.*76C>T | ENSP00000492677.1:n.*76C>T | |
| ENST00000262493.10:c.678C>T | ENSP00000262493.6:p.Val226= | |
| ENST00000262494.11:c.678C>T | ENSP00000262494.7:p.Val226= | |
| ENST00000568375.1:n.70C>T | ||
| NM_020988.2:c.678C>T | NP_066268.1:p.Val226= | |
| NM_138736.2:c.678C>T | NP_620073.2:p.Val226= | |
| XM_011523003.1:c.552C>T | XP_011521305.1:p.Val184= | |
| XM_011523003.3:c.552C>T | XP_011521305.1:p.Val184= | |
| NM_020988.3:c.678C>T MANE Select | NP_066268.1:p.Val226= | |
| NM_138736.3:c.678C>T | NP_620073.2:p.Val226= |