Linked Data
ClinVar Variation Id:
1143928
dbSNP Id:
rs2150946038
MyVariant Identifiers:
chr16:g.2096228C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046227C>T , CM000678.2:g.2046227C>T | GRCh38 |
| NC_000016.9:g.2096228C>T , CM000678.1:g.2096228C>T | GRCh37 |
| NC_000016.8:g.2036229C>T | NCBI36 |
| NG_005895.1:g.1922C>T , LRG_487:g.1922C>T | |
| NG_008412.1:g.6640G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.255G>A MANE Select | ENSP00000498421.1:p.Gln85= | |
| ENST00000651583.1:c.210G>A | ENSP00000498821.1:p.Gln70= | |
| ENST00000219066.5:c.279G>A | ENSP00000219066.1:p.Gln93= | |
| ENST00000561841.1:c.175G>A | ||
| ENST00000566380.5:c.218G>A | ||
| ENST00000568513.5:c.173+53G>A | ||
| NM_002528.5:c.279G>A | NP_002519.1:p.Gln93= | |
| XM_011522505.1:c.279G>A | XP_011520807.1:p.Gln93= | |
| NM_001318193.1:c.279G>A | NP_001305122.1:p.Gln93= | |
| NM_001318194.1:c.24+53G>A | NP_001305123.1:n.24+53G>A | |
| NM_002528.6:c.279G>A | NP_002519.1:p.Gln93= | |
| XM_017023253.1:c.279G>A | XP_016878742.1:p.Gln93= | |
| NM_001318193.2:c.255G>A | NP_001305122.2:p.Gln85= | |
| NM_002528.7:c.255G>A MANE Select | NP_002519.2:p.Gln85= | |
| NM_001318194.2:c.24+53G>A | NP_001305123.1:n.24+53G>A |