Linked Data
ClinVar Variation Id:
42062
ClinVar RCV Id:
RCV000034888
dbSNP Id:
rs386134132
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149177905T>C , CM000665.2:g.149177905T>C | GRCh38 |
| NC_000003.11:g.148895692T>C , CM000665.1:g.148895692T>C | GRCh37 |
| NC_000003.10:g.150378382T>C | NCBI36 |
| NG_011800.1:g.49141A>G | |
| NG_011800.2:g.49141A>G | |
| NG_011800.3:g.49141A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.2953A>G MANE Select | ENSP00000264613.6:p.Met985Val | |
| ENST00000264613.10:c.2953A>G | ENSP00000264613.6:p.Met985Val | |
| ENST00000460674.5:n.870A>G | ||
| ENST00000463556.5:n.475A>G | ||
| ENST00000473296.1:n.3A>G | ||
| ENST00000479771.5:c.358A>G | ENSP00000420367.1:p.Met120Val | |
| ENST00000481169.5:c.2740A>G | ENSP00000418773.1:p.Met914Val | |
| ENST00000490639.5:n.2985A>G | ||
| ENST00000494544.1:c.2302A>G | ENSP00000420545.1:p.Met768Val | |
| NM_000096.3:c.2953A>G | NP_000087.1:p.Met985Val | |
| NR_046371.1:n.2993A>G | ||
| XM_006713499.2:c.2953A>G | XP_006713562.1:p.Met985Val | |
| XM_006713500.2:c.2953A>G | XP_006713563.1:p.Met985Val | |
| XM_006713501.2:c.2953A>G | XP_006713564.1:p.Met985Val | |
| XM_011512435.1:c.2953A>G | XP_011510737.1:p.Met985Val | |
| XR_427361.2:n.3211A>G | ||
| XM_006713499.3:c.2953A>G | XP_006713562.1:p.Met985Val | |
| XM_006713500.4:c.2953A>G | XP_006713563.1:p.Met985Val | |
| XM_006713501.3:c.2953A>G | XP_006713564.1:p.Met985Val | |
| XM_011512435.2:c.2953A>G | XP_011510737.1:p.Met985Val | |
| XM_017005734.2:c.2953A>G | XP_016861223.1:p.Met985Val | |
| XM_017005735.2:c.2953A>G | XP_016861224.1:p.Met985Val | |
| XR_427361.3:n.3169A>G | ||
| NM_000096.4:c.2953A>G MANE Select | NP_000087.2:p.Met985Val | |
| NR_046371.2:n.2777A>G |