Linked Data
ClinVar Variation Id:
12233
ClinVar RCV Id:
RCV000013020
RCV000115857
RCV000198450
RCV000212390
RCV001253384
RCV001719696
RCV002490358
RCV003328149
RCV003944817
dbSNP Id:
rs121964872
ExAC:
16:68867265 A / G
gnomAD v2:
16-68867265-A-G
gnomAD v3:
16-68833362-A-G
gnomAD v4:
16-68833362-A-G
COSMIC:
COSM19745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833362A>G , CM000678.2:g.68833362A>G | GRCh38 |
| NC_000016.9:g.68867265A>G , CM000678.1:g.68867265A>G | GRCh37 |
| NC_000016.8:g.67424766A>G | NCBI36 |
| NG_008021.1:g.101071A>G , LRG_301:g.101071A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2512A>G MANE Select | ENSP00000261769.4:p.Ser838Gly | |
| ENST00000261769.9:c.2512A>G | ENSP00000261769.4:p.Ser838Gly | |
| ENST00000422392.6:c.2329A>G | ENSP00000414946.2:p.Ser777Gly | |
| ENST00000562118.1:n.730A>G | ||
| ENST00000562836.5:n.2583A>G | ||
| ENST00000566510.5:c.*1178A>G | ENSP00000458139.1:n.*1178A>G | |
| ENST00000566612.5:c.*752A>G | ENSP00000454782.1:n.*752A>G | |
| ENST00000611625.4:c.2575A>G | ENSP00000481063.1:p.Ser859Gly | |
| ENST00000612417.4:c.1854-829A>G | ENSP00000478360.1:n.1854-829A>G | |
| ENST00000621016.4:c.1866-841A>G | ENSP00000480664.1:n.1866-841A>G | |
| NM_004360.3:c.2512A>G , LRG_301t1:c.2512A>G | NP_004351.1:p.Ser838Gly | |
| XM_011523488.1:c.1777A>G | XP_011521790.1:p.Ser593Gly | |
| XM_011523489.1:c.1777A>G | XP_011521791.1:p.Ser593Gly | |
| NM_001317184.1:c.2329A>G | NP_001304113.1:p.Ser777Gly | |
| NM_001317185.1:c.964A>G | NP_001304114.1:p.Ser322Gly | |
| NM_001317186.1:c.547A>G | NP_001304115.1:p.Ser183Gly | |
| NM_004360.4:c.2512A>G | NP_004351.1:p.Ser838Gly | |
| NM_004360.5:c.2512A>G MANE Select | NP_004351.1:p.Ser838Gly | |
| NM_001317184.2:c.2329A>G | NP_001304113.1:p.Ser777Gly | |
| NM_001317185.2:c.964A>G | NP_001304114.1:p.Ser322Gly | |
| NM_001317186.2:c.547A>G | NP_001304115.1:p.Ser183Gly |