Linked Data
ClinVar Variation Id:
2846381
ClinVar RCV Id:
RCV003754643
MyVariant Identifiers:
chr16:g.56368713G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56334801G>A , CM000678.2:g.56334801G>A | GRCh38 |
| NC_000016.9:g.56368713G>A , CM000678.1:g.56368713G>A | GRCh37 |
| NC_000016.8:g.54926214G>A | NCBI36 |
| NG_042800.1:g.148463G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.537G>A | ENSP00000262494.7:p.Arg179= | |
| ENST00000262493.12:c.537G>A MANE Select | ENSP00000262493.6:p.Arg179= | |
| ENST00000262494.12:c.537G>A | ENSP00000262494.7:p.Arg179= | |
| ENST00000562316.6:c.204G>A | ENSP00000457238.2:p.Arg68= | |
| ENST00000638185.1:n.752G>A | ||
| ENST00000638210.1:n.837G>A | ||
| ENST00000638705.1:c.537G>A | ENSP00000491223.1:p.Arg179= | |
| ENST00000638836.1:n.447G>A | ||
| ENST00000639055.1:n.1258G>A | ||
| ENST00000639251.1:n.438G>A | ||
| ENST00000639268.1:c.229-1930G>A | ||
| ENST00000639341.1:c.62G>A | ||
| ENST00000639770.1:c.575G>A | ENSP00000491999.1:n.575G>A | |
| ENST00000640390.1:n.467G>A | ||
| ENST00000640893.1:c.376G>A | ENSP00000492677.1:p.Gly126Ser | |
| ENST00000262493.10:c.537G>A | ENSP00000262493.6:p.Arg179= | |
| ENST00000262494.11:c.537G>A | ENSP00000262494.7:p.Arg179= | |
| ENST00000562316.5:c.276G>A | ENSP00000457238.1:p.Arg92= | |
| NM_020988.2:c.537G>A | NP_066268.1:p.Arg179= | |
| NM_138736.2:c.537G>A | NP_620073.2:p.Arg179= | |
| XM_011523003.1:c.411G>A | XP_011521305.1:p.Arg137= | |
| XM_011523003.3:c.411G>A | XP_011521305.1:p.Arg137= | |
| NM_020988.3:c.537G>A MANE Select | NP_066268.1:p.Arg179= | |
| NM_138736.3:c.537G>A | NP_620073.2:p.Arg179= |