Linked Data
ClinVar Variation Id:
354784
dbSNP Id:
rs570463236
ExAC:
6:10764817 A / G
gnomAD v2:
6-10764817-A-G
gnomAD v3:
6-10764584-A-G
gnomAD v4:
6-10764584-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10764584A>G , CM000668.2:g.10764584A>G | GRCh38 |
| NC_000006.11:g.10764817A>G , CM000668.1:g.10764817A>G | GRCh37 |
| NC_000006.10:g.10872803A>G | NCBI36 |
| NG_030040.1:g.78972T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354489.7:c.1815T>C (MAK) MANE Select | ENSP00000346484.3:p.Thr605= | |
| ENST00000536370.6:c.1620T>C (MAK) | ENSP00000442221.2:p.Thr540= | |
| ENST00000538030.3:c.*471T>C (MAK) | ENSP00000442250.1:n.*471T>C | |
| ENST00000675026.1:c.*406T>C (MAK) | ENSP00000502542.1:n.*406T>C | |
| ENST00000676116.1:c.1518T>C (MAK) | ENSP00000502045.1:p.Thr506= | |
| ENST00000313243.6:c.1740T>C (MAK) | ENSP00000313021.2:p.Thr580= | |
| ENST00000354489.6:c.1815T>C (MAK) | ENSP00000346484.3:p.Thr605= | |
| ENST00000460341.5:c.101-5493A>G (TMEM14B) | ENSP00000417095.1:n.101-5493A>G | |
| ENST00000463100.5:c.101-5493A>G (TMEM14B) | ENSP00000419806.1:n.101-5493A>G | |
| ENST00000463448.5:c.101-5493A>G (TMEM14B) | ENSP00000419208.1:n.101-5493A>G | |
| ENST00000467229.1:c.157-5493A>G (TMEM14B) | ||
| ENST00000473166.5:c.101-5493A>G (TMEM14B) | ENSP00000417416.1:n.101-5493A>G | |
| ENST00000473807.5:c.101-5493A>G (TMEM14B) | ENSP00000419156.1:n.101-5493A>G | |
| ENST00000474039.5:c.1740T>C (MAK) | ENSP00000476067.1:p.Thr580= | |
| ENST00000478732.1:c.137-5493A>G (TMEM14B) | ENSP00000418927.1:n.137-5493A>G | |
| ENST00000480294.1:c.100+14886A>G | ENSP00000417929.1:n.100+14886A>G | |
| ENST00000536370.5:c.1620T>C (MAK) | ENSP00000442221.2:p.Thr540= | |
| ENST00000538030.2:c.*471T>C (MAK) | ENSP00000442250.1:n.*471T>C | |
| NM_001242385.1:c.1620T>C (MAK) | NP_001229314.1:p.Thr540= | |
| NM_001242957.1:c.1815T>C (MAK) | NP_001229886.1:p.Thr605= | |
| NM_005906.4:c.1740T>C (MAK) | NP_005897.1:p.Thr580= | |
| XM_011514619.1:c.1815T>C (MAK) | XP_011512921.1:p.Thr605= | |
| XM_011514620.1:c.1815T>C (MAK) | XP_011512922.1:p.Thr605= | |
| XM_011514621.1:c.1758T>C (MAK) | XP_011512923.1:p.Thr586= | |
| XM_011514622.1:c.1620T>C (MAK) | XP_011512924.1:p.Thr540= | |
| XM_011514623.1:c.1248T>C (MAK) | XP_011512925.1:p.Thr416= | |
| XM_011514624.1:c.1035T>C (MAK) | XP_011512926.1:p.Thr345= | |
| XR_926215.1:n.2310T>C (MAK) | ||
| XR_926219.1:n.2177T>C (MAK) | ||
| NM_001242957.2:c.1815T>C (MAK) | NP_001229886.1:p.Thr605= | |
| NM_005906.5:c.1740T>C (MAK) | NP_005897.1:p.Thr580= | |
| NR_134935.1:n.2127T>C (MAK) | ||
| NR_134936.1:n.2283T>C (MAK) | ||
| XM_011514619.2:c.1815T>C (MAK) | XP_011512921.1:p.Thr605= | |
| XM_011514620.2:c.1815T>C (MAK) | XP_011512922.1:p.Thr605= | |
| XM_011514621.2:c.1758T>C (MAK) | XP_011512923.1:p.Thr586= | |
| XM_011514622.3:c.1620T>C (MAK) | XP_011512924.1:p.Thr540= | |
| XM_011514624.2:c.1035T>C (MAK) | XP_011512926.1:p.Thr345= | |
| XM_017010863.2:c.1815T>C (MAK) | XP_016866352.1:p.Thr605= | |
| XM_017010864.2:c.1740T>C (MAK) | XP_016866353.1:p.Thr580= | |
| XM_017010865.1:c.1563T>C (MAK) | XP_016866354.1:p.Thr521= | |
| XM_024446443.1:c.1248T>C (MAK) | XP_024302211.1:p.Thr416= | |
| XR_926215.3:n.2248T>C (MAK) | ||
| NM_001242957.3:c.1815T>C (MAK) MANE Select | NP_001229886.1:p.Thr605= | |
| NM_001377262.1:c.1518T>C (MAK) | NP_001364191.1:p.Thr506= | |
| NM_005906.6:c.1740T>C (MAK) | NP_005897.1:p.Thr580= | |
| NR_134935.2:n.2111T>C (MAK) | ||
| NR_134936.2:n.2339T>C (MAK) | ||
| NM_001242385.2:c.1620T>C (MAK) | NP_001229314.1:p.Thr540= |