Linked Data
ClinVar Variation Id:
42124
dbSNP Id:
rs386134156
ExAC:
3:148896379 G / A
gnomAD v2:
3-148896379-G-A
gnomAD v3:
3-149178592-G-A
gnomAD v4:
3-149178592-G-A
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149178592G>A , CM000665.2:g.149178592G>A | GRCh38 |
| NC_000003.11:g.148896379G>A , CM000665.1:g.148896379G>A | GRCh37 |
| NC_000003.10:g.150379069G>A | NCBI36 |
| NG_011800.1:g.48454C>T | |
| NG_011800.2:g.48454C>T | |
| NG_011800.3:g.48454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.2701C>T MANE Select | ENSP00000264613.6:p.Arg901Ter | |
| ENST00000264613.10:c.2701C>T | ENSP00000264613.6:p.Arg901Ter | |
| ENST00000460674.5:n.618C>T | ||
| ENST00000463556.5:n.223C>T | ||
| ENST00000479771.5:c.106C>T | ENSP00000420367.1:p.Arg36Ter | |
| ENST00000481169.5:c.2488C>T | ENSP00000418773.1:p.Arg830Ter | |
| ENST00000490639.5:n.2733C>T | ||
| ENST00000494544.1:c.2050C>T | ENSP00000420545.1:p.Arg684Ter | |
| NM_000096.3:c.2701C>T | NP_000087.1:p.Arg901Ter | |
| NR_046371.1:n.2741C>T | ||
| XM_006713499.2:c.2701C>T | XP_006713562.1:p.Arg901Ter | |
| XM_006713500.2:c.2701C>T | XP_006713563.1:p.Arg901Ter | |
| XM_006713501.2:c.2701C>T | XP_006713564.1:p.Arg901Ter | |
| XM_011512435.1:c.2701C>T | XP_011510737.1:p.Arg901Ter | |
| XR_427361.2:n.2959C>T | ||
| XM_006713499.3:c.2701C>T | XP_006713562.1:p.Arg901Ter | |
| XM_006713500.4:c.2701C>T | XP_006713563.1:p.Arg901Ter | |
| XM_006713501.3:c.2701C>T | XP_006713564.1:p.Arg901Ter | |
| XM_011512435.2:c.2701C>T | XP_011510737.1:p.Arg901Ter | |
| XM_017005734.2:c.2701C>T | XP_016861223.1:p.Arg901Ter | |
| XM_017005735.2:c.2701C>T | XP_016861224.1:p.Arg901Ter | |
| XR_427361.3:n.2917C>T | ||
| NM_000096.4:c.2701C>T MANE Select | NP_000087.2:p.Arg901Ter | |
| NR_046371.2:n.2525C>T |