Linked Data
ClinVar Variation Id:
1273968
ClinVar RCV Id:
RCV001684956
dbSNP Id:
rs2070872
gnomAD v2:
17-79804721-A-G
gnomAD v3:
17-81846845-A-G
gnomAD v4:
17-81846845-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81846845A>G , CM000679.2:g.81846845A>G | GRCh38 |
| NC_000017.10:g.79804721A>G , CM000679.1:g.79804721A>G | GRCh37 |
| NC_000017.9:g.77398010A>G | NCBI36 |
| NG_042033.1:g.18824T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331483.9:c.855+102T>C MANE Select | ENSP00000327801.4:n.855+102T>C | |
| ENST00000415593.6:c.585+102T>C | ENSP00000388117.2:n.585+102T>C | |
| ENST00000439918.7:c.723+102T>C | ENSP00000388374.2:n.723+102T>C | |
| ENST00000466567.3:n.5639+102T>C | ||
| ENST00000471535.2:n.809+102T>C | ||
| ENST00000472244.6:n.885+102T>C | ||
| ENST00000474712.2:n.101+102T>C | ||
| ENST00000477607.7:n.1047+102T>C | ||
| ENST00000484286.2:n.834T>C | ||
| ENST00000570907.6:c.855+102T>C | ENSP00000461362.2:n.855+102T>C | |
| ENST00000571617.2:c.730-216T>C | ENSP00000458300.2:n.730-216T>C | |
| ENST00000573778.7:c.*670+102T>C | ENSP00000460088.3:n.*670+102T>C | |
| ENST00000574007.6:n.1513+102T>C | ||
| ENST00000574914.2:c.747+102T>C | ENSP00000460612.2:n.747+102T>C | |
| ENST00000575069.6:c.*670+102T>C | ENSP00000459211.1:n.*670+102T>C | |
| ENST00000576052.2:c.*226+102T>C | ENSP00000461791.2:n.*226+102T>C | |
| ENST00000576380.6:c.*536+102T>C | ENSP00000460285.2:n.*536+102T>C | |
| ENST00000576390.6:c.855+102T>C | ENSP00000461718.2:n.855+102T>C | |
| ENST00000576541.2:c.*714+102T>C | ENSP00000460741.2:n.*714+102T>C | |
| ENST00000679366.1:c.*38+102T>C | ENSP00000506375.1:n.*38+102T>C | |
| ENST00000679396.1:n.982+102T>C | ||
| ENST00000679439.1:c.855+102T>C | ENSP00000505377.1:n.855+102T>C | |
| ENST00000679455.1:c.*666+102T>C | ENSP00000505971.1:n.*666+102T>C | |
| ENST00000679470.1:n.1044T>C | ||
| ENST00000679628.1:n.1942T>C | ||
| ENST00000679688.1:c.*476+102T>C | ENSP00000505272.1:n.*476+102T>C | |
| ENST00000679889.1:c.*38+102T>C | ENSP00000506718.1:n.*38+102T>C | |
| ENST00000680076.1:n.953+102T>C | ||
| ENST00000680083.1:c.*589+102T>C | ENSP00000505575.1:n.*589+102T>C | |
| ENST00000680105.1:c.*313+102T>C | ENSP00000506284.1:n.*313+102T>C | |
| ENST00000680191.1:c.930+102T>C | ENSP00000506544.1:n.930+102T>C | |
| ENST00000680208.1:n.959+102T>C | ||
| ENST00000680226.1:c.855+102T>C | ENSP00000505635.1:n.855+102T>C | |
| ENST00000680259.1:c.*1356+102T>C | ENSP00000504869.1:n.*1356+102T>C | |
| ENST00000680368.1:n.2374+102T>C | ||
| ENST00000680400.1:c.-115+102T>C | ENSP00000505382.1:n.-115+102T>C | |
| ENST00000680416.1:c.*1154+102T>C | ENSP00000506306.1:n.*1154+102T>C | |
| ENST00000680547.1:n.1556+102T>C | ||
| ENST00000680559.1:n.1843+102T>C | ||
| ENST00000680593.1:c.855+102T>C | ENSP00000505754.1:n.855+102T>C | |
| ENST00000680719.1:n.1041+102T>C | ||
| ENST00000680732.1:c.*313+102T>C | ENSP00000505727.1:n.*313+102T>C | |
| ENST00000680799.1:n.904+102T>C | ||
| ENST00000680838.1:n.1546+102T>C | ||
| ENST00000680846.1:c.*476+102T>C | ENSP00000506612.1:n.*476+102T>C | |
| ENST00000680847.1:c.*343+102T>C | ENSP00000506451.1:n.*343+102T>C | |
| ENST00000680884.1:c.957+102T>C | ENSP00000505953.1:n.957+102T>C | |
| ENST00000680909.1:c.*1182+102T>C | ENSP00000505545.1:n.*1182+102T>C | |
| ENST00000680914.1:c.795+102T>C | ENSP00000505149.1:n.795+102T>C | |
| ENST00000681020.1:c.855+102T>C | ENSP00000506014.1:n.855+102T>C | |
| ENST00000681030.1:c.*1108+102T>C | ENSP00000505707.1:n.*1108+102T>C | |
| ENST00000681031.1:c.*644+102T>C | ENSP00000505466.1:n.*644+102T>C | |
| ENST00000681068.1:n.1367+102T>C | ||
| ENST00000681161.1:c.648+102T>C | ENSP00000505659.1:n.648+102T>C | |
| ENST00000681259.1:n.1412+102T>C | ||
| ENST00000681420.1:c.855+102T>C | ENSP00000505993.1:n.855+102T>C | |
| ENST00000681485.1:n.1088+102T>C | ||
| ENST00000681515.1:c.*258+102T>C | ENSP00000505872.1:n.*258+102T>C | |
| ENST00000681566.1:c.*38+102T>C | ENSP00000506218.1:n.*38+102T>C | |
| ENST00000681571.1:n.1714T>C | ||
| ENST00000681614.1:n.1249+102T>C | ||
| ENST00000681693.1:c.774+102T>C | ENSP00000505096.1:n.774+102T>C | |
| ENST00000681760.1:c.*670+102T>C | ENSP00000506555.1:n.*670+102T>C | |
| ENST00000681835.1:n.2201+102T>C | ||
| ENST00000681872.1:n.1142+102T>C | ||
| ENST00000681933.1:c.*672+102T>C | ENSP00000504864.1:n.*672+102T>C | |
| ENST00000681954.1:n.1689T>C | ||
| ENST00000331483.8:c.855+102T>C | ENSP00000327801.4:n.855+102T>C | |
| ENST00000415593.5:c.151+102T>C | ||
| ENST00000439918.6:c.723+102T>C | ENSP00000388374.2:n.723+102T>C | |
| ENST00000472244.5:n.738+102T>C | ||
| ENST00000477607.6:n.927+102T>C | ||
| ENST00000478034.5:n.541+102T>C | ||
| ENST00000570907.5:c.264+102T>C | ENSP00000461362.1:n.264+102T>C | |
| ENST00000571617.1:c.244-1198T>C | ENSP00000458300.1:n.244-1198T>C | |
| ENST00000575069.5:c.*670+102T>C | ENSP00000459211.1:n.*670+102T>C | |
| ENST00000576380.5:c.402+102T>C | ENSP00000460285.1:n.402+102T>C | |
| ENST00000576390.5:c.234-3245T>C | ENSP00000461718.1:n.234-3245T>C | |
| NM_000918.3:c.855+102T>C | NP_000909.2:n.855+102T>C | |
| XM_024450777.1:c.855+102T>C | XP_024306545.1:n.855+102T>C | |
| XR_002958014.1:n.919+102T>C | ||
| NM_000918.4:c.855+102T>C MANE Select | NP_000909.2:n.855+102T>C |