Linked Data
ClinVar Variation Id:
2763
dbSNP Id:
rs137852896
ExAC:
12:102183729 G / A
gnomAD v3:
12-101789951-G-A
gnomAD v4:
12-101789951-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101789951G>A , CM000674.2:g.101789951G>A | GRCh38 |
| NC_000012.11:g.102183729G>A , CM000674.1:g.102183729G>A | GRCh37 |
| NC_000012.10:g.100707860G>A | NCBI36 |
| NG_021243.1:g.45917C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.310C>T MANE Select | ENSP00000299314.7:p.Gln104Ter | |
| ENST00000299314.11:c.310C>T | ENSP00000299314.7:p.Gln104Ter | |
| ENST00000549940.5:c.310C>T | ENSP00000449150.1:p.Gln104Ter | |
| ENST00000550352.1:n.104C>T | ||
| NM_024312.4:c.310C>T | NP_077288.2:p.Gln104Ter | |
| XM_006719593.2:c.310C>T | XP_006719656.1:p.Gln104Ter | |
| XM_011538731.1:c.229C>T | XP_011537033.1:p.Gln77Ter | |
| XM_006719593.3:c.310C>T | XP_006719656.1:p.Gln104Ter | |
| XM_011538731.2:c.229C>T | XP_011537033.1:p.Gln77Ter | |
| XM_017019961.1:c.94C>T | XP_016875450.1:p.Gln32Ter | |
| XM_017019962.2:c.-1041C>T | XP_016875451.1:n.-1041C>T | |
| NM_024312.5:c.310C>T MANE Select | NP_077288.2:p.Gln104Ter |