Linked Data
ClinVar Variation Id:
39459
ClinVar RCV Id:
RCV000032655
dbSNP Id:
rs398122895
PubMed:
PMID:23001123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154585325T>A , CM000663.2:g.154585325T>A | GRCh38 |
| NC_000001.10:g.154557801T>A , CM000663.1:g.154557801T>A | GRCh37 |
| NC_000001.9:g.152824425T>A | NCBI36 |
| NG_011844.1:g.47637A>T | |
| NG_011844.2:g.51236A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.3229A>T | ENSP00000497790.2:n.3229A>T | |
| ENST00000649724.2:c.3365A>T | ENSP00000497932.2:p.Tyr1122Phe | |
| ENST00000680270.2:c.3218A>T | ENSP00000505532.2:p.Tyr1073Phe | |
| ENST00000681056.2:c.2987A>T | ENSP00000506234.2:p.Tyr996Phe | |
| ENST00000368471.8:c.2450A>T | ENSP00000357456.3:p.Tyr817Phe | |
| ENST00000368474.9:c.3335A>T MANE Select | ENSP00000357459.4:p.Tyr1112Phe | |
| ENST00000492630.2:n.2128A>T | ||
| ENST00000529168.2:c.3257A>T | ENSP00000431794.2:p.Tyr1086Phe | |
| ENST00000647682.2:n.3320A>T | ||
| ENST00000648231.2:c.2450A>T | ENSP00000497555.1:p.Tyr817Phe | |
| ENST00000648311.1:c.2450A>T | ENSP00000498137.1:p.Tyr817Phe | |
| ENST00000648714.2:c.*810A>T | ENSP00000497434.2:n.*810A>T | |
| ENST00000649021.1:n.4071A>T | ||
| ENST00000649022.2:c.2450A>T | ENSP00000496896.2:p.Tyr817Phe | |
| ENST00000649042.1:c.2450A>T | ENSP00000497790.1:p.Tyr817Phe | |
| ENST00000649408.2:c.*501A>T | ENSP00000497386.2:n.*501A>T | |
| ENST00000649724.1:c.2450A>T | ENSP00000497932.1:p.Tyr817Phe | |
| ENST00000649749.1:c.2450A>T | ENSP00000497210.1:p.Tyr817Phe | |
| ENST00000679375.1:c.*1567A>T | ENSP00000505887.1:n.*1567A>T | |
| ENST00000679465.1:n.4196A>T | ||
| ENST00000679805.1:n.4071A>T | ||
| ENST00000679899.1:c.2393A>T | ENSP00000505996.1:p.Tyr798Phe | |
| ENST00000680270.1:c.2450A>T | ENSP00000505532.1:p.Tyr817Phe | |
| ENST00000680305.1:c.3152A>T | ENSP00000506312.1:p.Tyr1051Phe | |
| ENST00000681056.1:c.2450A>T | ENSP00000506234.1:p.Tyr817Phe | |
| ENST00000681235.1:c.*2857A>T | ENSP00000506606.1:n.*2857A>T | |
| ENST00000681429.1:n.3003A>T | ||
| ENST00000681683.1:c.2450A>T | ENSP00000506666.1:p.Tyr817Phe | |
| ENST00000681786.1:n.4196A>T | ||
| ENST00000681901.1:c.*2935A>T | ENSP00000504883.1:n.*2935A>T | |
| ENST00000368471.7:c.2450A>T | ENSP00000357456.3:p.Tyr817Phe | |
| ENST00000368474.8:c.3335A>T | ENSP00000357459.4:p.Tyr1112Phe | |
| ENST00000492630.1:n.94A>T | ||
| ENST00000529168.1:c.3242A>T | ENSP00000431794.1:p.Tyr1081Phe | |
| NM_001025107.2:c.2450A>T | NP_001020278.1:p.Tyr817Phe | |
| NM_001111.4:c.3335A>T | NP_001102.2:p.Tyr1112Phe | |
| NM_001193495.1:c.2450A>T | NP_001180424.1:p.Tyr817Phe | |
| NM_015840.3:c.3257A>T | NP_056655.2:p.Tyr1086Phe | |
| NM_015841.3:c.3200A>T | NP_056656.2:p.Tyr1067Phe | |
| XM_006711109.1:c.3365A>T | XP_006711172.1:p.Tyr1122Phe | |
| XM_006711111.2:c.2450A>T | XP_006711174.1:p.Tyr817Phe | |
| XM_006711112.1:c.2450A>T | XP_006711175.1:p.Tyr817Phe | |
| XM_006711113.1:c.2450A>T | XP_006711176.1:p.Tyr817Phe | |
| XM_011509060.1:c.3464A>T | XP_011507362.1:p.Tyr1155Phe | |
| XM_011509061.1:c.3386A>T | XP_011507363.1:p.Tyr1129Phe | |
| XM_011509062.1:c.3353A>T | XP_011507364.1:p.Tyr1118Phe | |
| NM_001025107.3:c.2450A>T | NP_001020278.1:p.Tyr817Phe | |
| NM_001111.5:c.3335A>T MANE Select | NP_001102.3:p.Tyr1112Phe | |
| NM_001193495.2:c.2450A>T | NP_001180424.1:p.Tyr817Phe | |
| NM_001365045.1:c.3362A>T | NP_001351974.1:p.Tyr1121Phe | |
| NM_001365046.1:c.2450A>T | NP_001351975.1:p.Tyr817Phe | |
| NM_001365047.1:c.2450A>T | NP_001351976.1:p.Tyr817Phe | |
| NM_001365048.1:c.2450A>T | NP_001351977.1:p.Tyr817Phe | |
| NM_001365049.1:c.2372A>T | NP_001351978.1:p.Tyr791Phe | |
| NM_015840.4:c.3257A>T | NP_056655.3:p.Tyr1086Phe | |
| NM_015841.4:c.3200A>T | NP_056656.3:p.Tyr1067Phe | |
| XM_006711113.2:c.2450A>T | XP_006711176.1:p.Tyr817Phe | |
| XM_011509061.2:c.2372A>T | XP_011507363.2:p.Tyr791Phe | |
| XM_024449674.1:c.3464A>T | XP_024305442.1:p.Tyr1155Phe |