Linked Data
ClinVar Variation Id:
1532127
ClinVar RCV Id:
RCV002099875
dbSNP Id:
rs2152212224
MyVariant Identifiers:
chr16:g.16248751G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154894G>A , CM000678.2:g.16154894G>A | GRCh38 |
| NC_000016.9:g.16248751G>A , CM000678.1:g.16248751G>A | GRCh37 |
| NC_000016.8:g.16156252G>A | NCBI36 |
| NG_007558.2:g.73578C>T | |
| NG_007558.3:g.73724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.883C>T | ||
| ENST00000622290.5:c.*192C>T | ENSP00000483331.2:n.*192C>T | |
| ENST00000205557.12:c.4020C>T MANE Select | ENSP00000205557.7:p.Ser1340= | |
| ENST00000640696.1:c.834C>T | ENSP00000492197.1:p.Ser278= | |
| ENST00000205557.11:c.4020C>T | ENSP00000205557.7:p.Ser1340= | |
| ENST00000456970.6:c.3645C>T | ENSP00000405002.2:n.3645C>T | |
| ENST00000576204.5:n.883C>T | ||
| ENST00000622290.4:c.*1229C>T | ENSP00000483331.1:n.*1229C>T | |
| NM_001171.5:c.4020C>T | NP_001162.4:p.Ser1340= | |
| XM_011522479.1:c.3987C>T | XP_011520781.1:p.Ser1329= | |
| XM_011522480.1:c.3678C>T | XP_011520782.1:p.Ser1226= | |
| XM_011522481.1:c.3678C>T | XP_011520783.1:p.Ser1226= | |
| XR_933134.1:n.539-4887G>A | ||
| NM_001351800.1:c.3678C>T | NP_001338729.1:p.Ser1226= | |
| NR_147784.1:n.3682C>T | ||
| XM_011522479.2:c.3987C>T | XP_011520781.1:p.Ser1329= | |
| XM_011522481.3:c.3678C>T | XP_011520783.1:p.Ser1226= | |
| XM_017023212.1:c.3852C>T | XP_016878701.1:p.Ser1284= | |
| XM_024450261.1:c.4056C>T | XP_024306029.1:p.Ser1352= | |
| NM_001171.6:c.4020C>T MANE Select | NP_001162.5:p.Ser1340= |