Linked Data
ClinVar Variation Id:
42126
ClinVar RCV Id:
RCV000034953
dbSNP Id:
rs386134126
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149207551C>G , CM000665.2:g.149207551C>G | GRCh38 |
| NC_000003.11:g.148925338C>G , CM000665.1:g.148925338C>G | GRCh37 |
| NC_000003.10:g.150408028C>G | NCBI36 |
| NG_011800.1:g.19495G>C | |
| NG_011800.2:g.19495G>C | |
| NG_011800.3:g.19495G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.848G>C MANE Select | ENSP00000264613.6:p.Trp283Ser | |
| ENST00000264613.10:c.848G>C | ENSP00000264613.6:p.Trp283Ser | |
| ENST00000481169.5:c.848G>C | ENSP00000418773.1:p.Trp283Ser | |
| ENST00000489736.5:n.73G>C | ||
| ENST00000490639.5:n.880G>C | ||
| ENST00000494544.1:c.197G>C | ENSP00000420545.1:p.Trp66Ser | |
| NM_000096.3:c.848G>C | NP_000087.1:p.Trp283Ser | |
| NR_046371.1:n.1101G>C | ||
| XM_006713499.2:c.848G>C | XP_006713562.1:p.Trp283Ser | |
| XM_006713500.2:c.848G>C | XP_006713563.1:p.Trp283Ser | |
| XM_006713501.2:c.848G>C | XP_006713564.1:p.Trp283Ser | |
| XM_006713502.2:c.848G>C | XP_006713565.1:p.Trp283Ser | |
| XM_011512435.1:c.848G>C | XP_011510737.1:p.Trp283Ser | |
| XR_427361.2:n.1106G>C | ||
| XM_006713499.3:c.848G>C | XP_006713562.1:p.Trp283Ser | |
| XM_006713500.4:c.848G>C | XP_006713563.1:p.Trp283Ser | |
| XM_006713501.3:c.848G>C | XP_006713564.1:p.Trp283Ser | |
| XM_011512435.2:c.848G>C | XP_011510737.1:p.Trp283Ser | |
| XM_017005734.2:c.848G>C | XP_016861223.1:p.Trp283Ser | |
| XM_017005735.2:c.848G>C | XP_016861224.1:p.Trp283Ser | |
| XR_427361.3:n.1064G>C | ||
| NM_000096.4:c.848G>C MANE Select | NP_000087.2:p.Trp283Ser | |
| NR_046371.2:n.885G>C |