Linked Data
ClinVar Variation Id:
310714
dbSNP Id:
rs35144639
ExAC:
12:96384162 G / A
gnomAD v2:
12-96384162-G-A
gnomAD v3:
12-95990384-G-A
gnomAD v4:
12-95990384-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95990384G>A , CM000674.2:g.95990384G>A | GRCh38 |
| NC_000012.11:g.96384162G>A , CM000674.1:g.96384162G>A | GRCh37 |
| NC_000012.10:g.94908293G>A | NCBI36 |
| NG_008180.1:g.10910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261208.8:c.855+9C>T MANE Select | ENSP00000261208.3:n.855+9C>T | |
| ENST00000261208.7:c.855+9C>T | ENSP00000261208.3:n.855+9C>T | |
| ENST00000538703.5:c.855+9C>T | ENSP00000440861.1:n.855+9C>T | |
| ENST00000541929.5:c.231+9C>T | ENSP00000446364.1:n.231+9C>T | |
| ENST00000544080.6:c.*284+9C>T | ENSP00000439385.2:n.*284+9C>T | |
| ENST00000546999.5:c.*284+9C>T | ENSP00000447675.1:n.*284+9C>T | |
| ENST00000549376.1:n.257C>T | ||
| ENST00000551562.1:n.115+9C>T | ||
| ENST00000552509.5:c.819+9C>T | ENSP00000450372.1:n.819+9C>T | |
| NM_001258333.1:c.231+9C>T | NP_001245262.1:n.231+9C>T | |
| NM_001258334.1:c.855+9C>T | NP_001245263.1:n.855+9C>T | |
| NM_002108.3:c.855+9C>T | NP_002099.1:n.855+9C>T | |
| XM_011538249.1:c.4-2144C>T | XP_011536551.1:n.4-2144C>T | |
| XM_011538249.2:c.4-2144C>T | XP_011536551.1:n.4-2144C>T | |
| XM_017019246.1:c.-618C>T | XP_016874735.1:n.-618C>T | |
| NM_002108.4:c.855+9C>T MANE Select | NP_002099.1:n.855+9C>T | |
| NM_001258334.2:c.855+9C>T | NP_001245263.1:n.855+9C>T | |
| NM_001258333.2:c.231+9C>T | NP_001245262.1:n.231+9C>T |