Linked Data
ClinVar Variation Id:
161836
ClinVar RCV Id:
RCV000149372
dbSNP Id:
rs193920764
gnomAD v4:
4-128121988-G-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.128121988G>T , CM000666.2:g.128121988G>T | GRCh38 |
| NC_000004.11:g.129043143G>T , CM000666.1:g.129043143G>T | GRCh37 |
| NC_000004.10:g.129262593G>T | NCBI36 |
| NG_047161.1:g.65723G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649983.2:c.1324G>T | ENSP00000497192.2:p.Asp442Tyr | |
| ENST00000704292.1:c.1324G>T | ENSP00000515817.1:p.Asp442Tyr | |
| ENST00000704293.1:c.1324G>T | ENSP00000515818.1:p.Asp442Tyr | |
| ENST00000326639.11:c.1324G>T MANE Select | ENSP00000321997.6:p.Asp442Tyr | |
| ENST00000649983.1:c.1927G>T | ENSP00000497192.1:p.Asp643Tyr | |
| ENST00000326639.10:c.1324G>T | ENSP00000321997.6:p.Asp442Tyr | |
| ENST00000507377.1:c.1229G>T | ||
| ENST00000508819.5:c.1183G>T | ENSP00000427281.1:p.Asp395Tyr | |
| ENST00000512292.5:c.1324G>T | ENSP00000422850.1:p.Asp442Tyr | |
| NM_018078.3:c.1324G>T | NP_060548.2:p.Asp442Tyr | |
| NM_178043.2:c.1324G>T | NP_835144.1:p.Asp442Tyr | |
| XM_011532057.1:c.1324G>T | XP_011530359.1:p.Asp442Tyr | |
| XM_011532058.1:c.1324G>T | XP_011530360.1:p.Asp442Tyr | |
| XM_011532059.1:c.1324G>T | XP_011530361.1:p.Asp442Tyr | |
| XM_011532060.1:c.1324G>T | XP_011530362.1:p.Asp442Tyr | |
| XM_011532061.1:c.1786G>T | XP_011530363.1:p.Asp596Tyr | |
| XM_011532062.1:c.1324G>T | XP_011530364.1:p.Asp442Tyr | |
| XM_011532063.1:c.1324G>T | XP_011530365.1:p.Asp442Tyr | |
| XM_011532064.1:c.1324G>T | XP_011530366.1:p.Asp442Tyr | |
| XM_011532065.1:c.1786G>T | XP_011530367.1:p.Asp596Tyr | |
| XM_011532066.1:c.1161+7246G>T | XP_011530368.1:n.1161+7246G>T | |
| XM_011532067.1:c.1324G>T | XP_011530369.1:p.Asp442Tyr | |
| XM_011532068.1:c.1183G>T | XP_011530370.1:p.Asp395Tyr | |
| XM_011532069.1:c.1183G>T | XP_011530371.1:p.Asp395Tyr | |
| XM_011532070.1:c.1324G>T | XP_011530372.1:p.Asp442Tyr | |
| XM_011532071.1:c.1324G>T | XP_011530373.1:p.Asp442Tyr | |
| XM_011532072.1:c.1324G>T | XP_011530374.1:p.Asp442Tyr | |
| XM_011532073.1:c.1324G>T | XP_011530375.1:p.Asp442Tyr | |
| XM_011532074.1:c.1324G>T | XP_011530376.1:p.Asp442Tyr | |
| XM_011532075.1:c.601G>T | XP_011530377.1:p.Asp201Tyr | |
| XM_011532076.1:c.601G>T | XP_011530378.1:p.Asp201Tyr | |
| XM_011532077.1:c.601G>T | XP_011530379.1:p.Asp201Tyr | |
| XM_011532078.1:c.1324G>T | XP_011530380.1:p.Asp442Tyr | |
| XR_938753.1:n.1401G>T | ||
| XR_938754.1:n.1401G>T | ||
| XR_938755.1:n.1401G>T | ||
| XR_938756.1:n.1401G>T | ||
| XR_938757.1:n.1401G>T | ||
| XR_938758.1:n.1401G>T | ||
| XR_938759.1:n.1401G>T | ||
| XR_938760.1:n.1401G>T | ||
| XR_938761.1:n.1401G>T | ||
| XR_938762.1:n.1401G>T | ||
| NM_001350531.1:c.601G>T | NP_001337460.1:p.Asp201Tyr | |
| NR_146772.1:n.1537G>T | ||
| XM_011532057.2:c.1927G>T | XP_011530359.2:p.Asp643Tyr | |
| XM_011532058.3:c.1927G>T | XP_011530360.2:p.Asp643Tyr | |
| XM_011532059.2:c.1927G>T | XP_011530361.2:p.Asp643Tyr | |
| XM_011532060.2:c.1927G>T | XP_011530362.2:p.Asp643Tyr | |
| XM_011532061.2:c.1786G>T | XP_011530363.1:p.Asp596Tyr | |
| XM_011532062.2:c.1927G>T | XP_011530364.2:p.Asp643Tyr | |
| XM_011532063.2:c.1927G>T | XP_011530365.2:p.Asp643Tyr | |
| XM_011532064.2:c.1927G>T | XP_011530366.2:p.Asp643Tyr | |
| XM_011532065.2:c.1786G>T | XP_011530367.1:p.Asp596Tyr | |
| XM_011532070.2:c.1927G>T | XP_011530372.2:p.Asp643Tyr | |
| XM_011532072.2:c.1927G>T | XP_011530374.2:p.Asp643Tyr | |
| XM_011532073.2:c.1927G>T | XP_011530375.2:p.Asp643Tyr | |
| XM_011532077.2:c.601G>T | XP_011530379.1:p.Asp201Tyr | |
| XM_017008338.1:c.1927G>T | XP_016863827.1:p.Asp643Tyr | |
| XM_017008339.1:c.1927G>T | XP_016863828.1:p.Asp643Tyr | |
| XM_017008340.1:c.1324G>T | XP_016863829.1:p.Asp442Tyr | |
| XM_017008341.1:c.1324G>T | XP_016863830.1:p.Asp442Tyr | |
| XM_017008342.1:c.1285G>T | XP_016863831.1:p.Asp429Tyr | |
| XM_017008343.1:c.1324G>T | XP_016863832.1:p.Asp442Tyr | |
| XM_017008344.1:c.1324G>T | XP_016863833.1:p.Asp442Tyr | |
| XM_017008345.1:c.1927G>T | XP_016863834.1:p.Asp643Tyr | |
| XM_017008347.1:c.1927G>T | XP_016863836.1:p.Asp643Tyr | |
| XM_017008348.1:c.1927G>T | XP_016863837.1:p.Asp643Tyr | |
| XM_017008350.1:c.601G>T | XP_016863839.1:p.Asp201Tyr | |
| XM_024454116.1:c.1927G>T | XP_024309884.1:p.Asp643Tyr | |
| XM_024454117.1:c.601G>T | XP_024309885.1:p.Asp201Tyr | |
| XM_024454118.1:c.601G>T | XP_024309886.1:p.Asp201Tyr | |
| XR_001741268.1:n.2338G>T | ||
| XR_001741269.1:n.2336G>T | ||
| XR_001741271.1:n.2334G>T | ||
| XR_001741272.2:n.2334G>T | ||
| XR_001741273.1:n.2332G>T | ||
| XR_001741274.1:n.1537G>T | ||
| XR_002959741.1:n.2334G>T | ||
| XR_938753.2:n.2339G>T | ||
| XR_938754.2:n.2339G>T | ||
| XR_938756.2:n.2338G>T | ||
| XR_938758.2:n.2334G>T | ||
| XR_938761.3:n.2334G>T | ||
| NM_018078.4:c.1324G>T MANE Select | NP_060548.2:p.Asp442Tyr | |
| NM_001350531.2:c.601G>T | NP_001337460.1:p.Asp201Tyr | |
| NM_178043.3:c.1324G>T | NP_835144.1:p.Asp442Tyr | |
| NR_146772.2:n.1491G>T |