Linked Data
ClinVar Variation Id:
383224
dbSNP Id:
rs61747591
ExAC:
16:89712379 C / T
gnomAD v2:
16-89712379-C-T
gnomAD v3:
16-89645971-C-T
gnomAD v4:
16-89645971-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89645971C>T , CM000678.2:g.89645971C>T | GRCh38 |
| NC_000016.9:g.89712379C>T , CM000678.1:g.89712379C>T | GRCh37 |
| NC_000016.8:g.88239880C>T | NCBI36 |
| NG_033005.1:g.16815G>A | |
| NG_033005.2:g.16815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397901.8:c.*95G>A MANE Select | ENSP00000380998.3:n.*95G>A | |
| ENST00000535997.7:c.705G>A | ENSP00000442120.3:p.Ala235= | |
| ENST00000547687.2:n.1434G>A | ||
| ENST00000549328.2:c.*308G>A | ENSP00000447899.1:n.*308G>A | |
| ENST00000551981.6:n.1261G>A | ||
| ENST00000674799.1:c.*95G>A | ENSP00000502267.1:n.*95G>A | |
| ENST00000675016.1:c.*2010G>A | ENSP00000502282.1:n.*2010G>A | |
| ENST00000675076.1:n.682G>A | ||
| ENST00000675161.1:c.*308G>A | ENSP00000501615.1:n.*308G>A | |
| ENST00000675309.1:c.*559G>A | ENSP00000502291.1:n.*559G>A | |
| ENST00000675536.1:c.741G>A | ENSP00000501759.1:p.Ala247= | |
| ENST00000675778.1:c.*95G>A | ENSP00000502825.1:n.*95G>A | |
| ENST00000675909.1:c.*95G>A | ENSP00000502022.1:n.*95G>A | |
| ENST00000675952.1:n.955G>A | ||
| ENST00000676118.1:c.*603G>A | ENSP00000501619.1:n.*603G>A | |
| ENST00000676342.1:n.2144G>A | ||
| ENST00000676355.1:c.*95G>A | ENSP00000502147.1:n.*95G>A | |
| ENST00000676402.1:c.*681G>A | ENSP00000501794.1:n.*681G>A | |
| ENST00000397901.7:c.*95G>A | ENSP00000380998.3:n.*95G>A | |
| ENST00000535997.6:c.*95G>A | ENSP00000442120.2:n.*95G>A | |
| ENST00000547687.1:n.471G>A | ||
| ENST00000549139.5:n.677G>A | ||
| ENST00000549328.1:c.*308G>A | ENSP00000447899.1:n.*308G>A | |
| ENST00000550102.5:c.*95G>A | ENSP00000449243.1:n.*95G>A | |
| NM_001083314.3:c.666G>A | NP_001076783.1:p.Ala222= | |
| NM_002768.4:c.*95G>A | NP_002759.2:n.*95G>A | |
| NR_046418.2:n.1051G>A | ||
| XM_011523099.1:c.1011G>A | XP_011521401.1:p.Ala337= | |
| NM_002768.5:c.*95G>A MANE Select | NP_002759.2:n.*95G>A | |
| NM_001083314.4:c.666G>A | NP_001076783.1:p.Ala222= | |
| NR_046418.3:n.974G>A |