Linked Data
ClinVar Variation Id:
14820
ClinVar RCV Id:
RCV000015943
dbSNP Id:
rs28936681
gnomAD v2:
1-154557469-A-G
PubMed:
PMID:12916015
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154584993A>G , CM000663.2:g.154584993A>G | GRCh38 |
| NC_000001.10:g.154557469A>G , CM000663.1:g.154557469A>G | GRCh37 |
| NC_000001.9:g.152824093A>G | NCBI36 |
| NG_011844.1:g.47969T>C | |
| NG_011844.2:g.51568T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649042.2:c.3388T>C | ENSP00000497790.2:n.3388T>C | |
| ENST00000649724.2:c.3524T>C | ENSP00000497932.2:p.Phe1175Ser | |
| ENST00000680270.2:c.3377T>C | ENSP00000505532.2:p.Phe1126Ser | |
| ENST00000681056.2:c.3146T>C | ENSP00000506234.2:p.Phe1049Ser | |
| ENST00000368471.8:c.2609T>C | ENSP00000357456.3:p.Phe870Ser | |
| ENST00000368474.9:c.3494T>C MANE Select | ENSP00000357459.4:p.Phe1165Ser | |
| ENST00000492630.2:n.2287T>C | ||
| ENST00000529168.2:c.3416T>C | ENSP00000431794.2:p.Phe1139Ser | |
| ENST00000647682.2:n.3479T>C | ||
| ENST00000648231.2:c.2609T>C | ENSP00000497555.1:p.Phe870Ser | |
| ENST00000648311.1:c.2609T>C | ENSP00000498137.1:p.Phe870Ser | |
| ENST00000648714.2:c.*969T>C | ENSP00000497434.2:n.*969T>C | |
| ENST00000649021.1:n.4230T>C | ||
| ENST00000649022.2:c.2609T>C | ENSP00000496896.2:p.Phe870Ser | |
| ENST00000649042.1:c.2609T>C | ENSP00000497790.1:p.Phe870Ser | |
| ENST00000649408.2:c.*660T>C | ENSP00000497386.2:n.*660T>C | |
| ENST00000649724.1:c.2609T>C | ENSP00000497932.1:p.Phe870Ser | |
| ENST00000649749.1:c.2609T>C | ENSP00000497210.1:p.Phe870Ser | |
| ENST00000679375.1:c.*1726T>C | ENSP00000505887.1:n.*1726T>C | |
| ENST00000679465.1:n.4355T>C | ||
| ENST00000679805.1:n.4230T>C | ||
| ENST00000679899.1:c.2552T>C | ENSP00000505996.1:p.Phe851Ser | |
| ENST00000680270.1:c.2609T>C | ENSP00000505532.1:p.Phe870Ser | |
| ENST00000680305.1:c.3311T>C | ENSP00000506312.1:p.Phe1104Ser | |
| ENST00000681056.1:c.2609T>C | ENSP00000506234.1:p.Phe870Ser | |
| ENST00000681235.1:c.*3016T>C | ENSP00000506606.1:n.*3016T>C | |
| ENST00000681429.1:n.3162T>C | ||
| ENST00000681683.1:c.2609T>C | ENSP00000506666.1:p.Phe870Ser | |
| ENST00000681786.1:n.4355T>C | ||
| ENST00000681901.1:c.*3094T>C | ENSP00000504883.1:n.*3094T>C | |
| ENST00000368471.7:c.2609T>C | ENSP00000357456.3:p.Phe870Ser | |
| ENST00000368474.8:c.3494T>C | ENSP00000357459.4:p.Phe1165Ser | |
| ENST00000492630.1:n.253T>C | ||
| ENST00000529168.1:c.3401T>C | ENSP00000431794.1:p.Phe1134Ser | |
| NM_001025107.2:c.2609T>C | NP_001020278.1:p.Phe870Ser | |
| NM_001111.4:c.3494T>C | NP_001102.2:p.Phe1165Ser | |
| NM_001193495.1:c.2609T>C | NP_001180424.1:p.Phe870Ser | |
| NM_015840.3:c.3416T>C | NP_056655.2:p.Phe1139Ser | |
| NM_015841.3:c.3359T>C | NP_056656.2:p.Phe1120Ser | |
| XM_006711109.1:c.3524T>C | XP_006711172.1:p.Phe1175Ser | |
| XM_006711111.2:c.2609T>C | XP_006711174.1:p.Phe870Ser | |
| XM_006711112.1:c.2609T>C | XP_006711175.1:p.Phe870Ser | |
| XM_006711113.1:c.2609T>C | XP_006711176.1:p.Phe870Ser | |
| XM_011509060.1:c.3623T>C | XP_011507362.1:p.Phe1208Ser | |
| XM_011509061.1:c.3545T>C | XP_011507363.1:p.Phe1182Ser | |
| XM_011509062.1:c.3512T>C | XP_011507364.1:p.Phe1171Ser | |
| NM_001025107.3:c.2609T>C | NP_001020278.1:p.Phe870Ser | |
| NM_001111.5:c.3494T>C MANE Select | NP_001102.3:p.Phe1165Ser | |
| NM_001193495.2:c.2609T>C | NP_001180424.1:p.Phe870Ser | |
| NM_001365045.1:c.3521T>C | NP_001351974.1:p.Phe1174Ser | |
| NM_001365046.1:c.2609T>C | NP_001351975.1:p.Phe870Ser | |
| NM_001365047.1:c.2609T>C | NP_001351976.1:p.Phe870Ser | |
| NM_001365048.1:c.2609T>C | NP_001351977.1:p.Phe870Ser | |
| NM_001365049.1:c.2531T>C | NP_001351978.1:p.Phe844Ser | |
| NM_015840.4:c.3416T>C | NP_056655.3:p.Phe1139Ser | |
| NM_015841.4:c.3359T>C | NP_056656.3:p.Phe1120Ser | |
| XM_006711113.2:c.2609T>C | XP_006711176.1:p.Phe870Ser | |
| XM_011509061.2:c.2531T>C | XP_011507363.2:p.Phe844Ser | |
| XM_024449674.1:c.3623T>C | XP_024305442.1:p.Phe1208Ser |