Linked Data
ClinVar Variation Id:
194362
dbSNP Id:
rs79544660
ExAC:
6:10770421 A / G
gnomAD v2:
6-10770421-A-G
gnomAD v3:
6-10770188-A-G
gnomAD v4:
6-10770188-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10770188A>G , CM000668.2:g.10770188A>G | GRCh38 |
| NC_000006.11:g.10770421A>G , CM000668.1:g.10770421A>G | GRCh37 |
| NC_000006.10:g.10878407A>G | NCBI36 |
| NG_030040.1:g.73368T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354489.7:c.1715T>C (MAK) MANE Select | ENSP00000346484.3:p.Ile572Thr | |
| ENST00000536370.6:c.1597+5140T>C (MAK) | ENSP00000442221.2:n.1597+5140T>C | |
| ENST00000538030.3:c.*371T>C (MAK) | ENSP00000442250.1:n.*371T>C | |
| ENST00000675026.1:c.*306T>C (MAK) | ENSP00000502542.1:n.*306T>C | |
| ENST00000676116.1:c.1495+5140T>C (MAK) | ENSP00000502045.1:n.1495+5140T>C | |
| ENST00000313243.6:c.1640T>C (MAK) | ENSP00000313021.2:p.Ile547Thr | |
| ENST00000354489.6:c.1715T>C (MAK) | ENSP00000346484.3:p.Ile572Thr | |
| ENST00000460341.5:c.*104A>G (TMEM14B) | ENSP00000417095.1:n.*104A>G | |
| ENST00000463100.5:c.*104A>G (TMEM14B) | ENSP00000419806.1:n.*104A>G | |
| ENST00000463448.5:c.*104A>G (TMEM14B) | ENSP00000419208.1:n.*104A>G | |
| ENST00000467229.1:c.268A>G (TMEM14B) | ||
| ENST00000473166.5:c.*104A>G (TMEM14B) | ENSP00000417416.1:n.*104A>G | |
| ENST00000473807.5:c.*104A>G (TMEM14B) | ENSP00000419156.1:n.*104A>G | |
| ENST00000474039.5:c.1640T>C (MAK) | ENSP00000476067.1:p.Ile547Thr | |
| ENST00000478732.1:c.248A>G (TMEM14B) | ENSP00000418927.1:n.248A>G | |
| ENST00000480294.1:c.100+20490A>G | ENSP00000417929.1:n.100+20490A>G | |
| ENST00000489137.1:n.112A>G (TMEM14B) | ||
| ENST00000536370.5:c.1597+5140T>C (MAK) | ENSP00000442221.2:n.1597+5140T>C | |
| ENST00000538030.2:c.*371T>C (MAK) | ENSP00000442250.1:n.*371T>C | |
| NM_001242385.1:c.1597+5140T>C (MAK) | NP_001229314.1:n.1597+5140T>C | |
| NM_001242957.1:c.1715T>C (MAK) | NP_001229886.1:p.Ile572Thr | |
| NM_005906.4:c.1640T>C (MAK) | NP_005897.1:p.Ile547Thr | |
| XM_011514619.1:c.1715T>C (MAK) | XP_011512921.1:p.Ile572Thr | |
| XM_011514620.1:c.1715T>C (MAK) | XP_011512922.1:p.Ile572Thr | |
| XM_011514621.1:c.1658T>C (MAK) | XP_011512923.1:p.Ile553Thr | |
| XM_011514622.1:c.1597+5140T>C (MAK) | XP_011512924.1:n.1597+5140T>C | |
| XM_011514623.1:c.1148T>C (MAK) | XP_011512925.1:p.Ile383Thr | |
| XM_011514624.1:c.935T>C (MAK) | XP_011512926.1:p.Ile312Thr | |
| XR_926215.1:n.2047T>C (MAK) | ||
| XR_926216.1:n.2180T>C (MAK) | ||
| XR_926219.1:n.2077T>C (MAK) | ||
| NM_001242957.2:c.1715T>C (MAK) | NP_001229886.1:p.Ile572Thr | |
| NM_005906.5:c.1640T>C (MAK) | NP_005897.1:p.Ile547Thr | |
| NR_134935.1:n.2027T>C (MAK) | ||
| NR_134936.1:n.2183T>C (MAK) | ||
| XM_011514619.2:c.1715T>C (MAK) | XP_011512921.1:p.Ile572Thr | |
| XM_011514620.2:c.1715T>C (MAK) | XP_011512922.1:p.Ile572Thr | |
| XM_011514621.2:c.1658T>C (MAK) | XP_011512923.1:p.Ile553Thr | |
| XM_011514622.3:c.1597+5140T>C (MAK) | XP_011512924.1:n.1597+5140T>C | |
| XM_011514624.2:c.935T>C (MAK) | XP_011512926.1:p.Ile312Thr | |
| XM_017010863.2:c.1715T>C (MAK) | XP_016866352.1:p.Ile572Thr | |
| XM_017010864.2:c.1640T>C (MAK) | XP_016866353.1:p.Ile547Thr | |
| XM_017010865.1:c.1540+5140T>C (MAK) | XP_016866354.1:n.1540+5140T>C | |
| XM_024446443.1:c.1148T>C (MAK) | XP_024302211.1:p.Ile383Thr | |
| XR_002956283.1:n.2082T>C (MAK) | ||
| XR_926215.3:n.1985T>C (MAK) | ||
| NM_001242957.3:c.1715T>C (MAK) MANE Select | NP_001229886.1:p.Ile572Thr | |
| NM_001377262.1:c.1495+5140T>C (MAK) | NP_001364191.1:n.1495+5140T>C | |
| NM_005906.6:c.1640T>C (MAK) | NP_005897.1:p.Ile547Thr | |
| NR_134935.2:n.2011T>C (MAK) | ||
| NR_134936.2:n.2239T>C (MAK) | ||
| NM_001242385.2:c.1597+5140T>C (MAK) | NP_001229314.1:n.1597+5140T>C |