Linked Data
ClinVar Variation Id:
354795
dbSNP Id:
rs62000445
ExAC:
6:10792040 C / A
gnomAD v2:
6-10792040-C-A
gnomAD v3:
6-10791807-C-A
gnomAD v4:
6-10791807-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10791807C>A , CM000668.2:g.10791807C>A | GRCh38 |
| NC_000006.11:g.10792040C>A , CM000668.1:g.10792040C>A | GRCh37 |
| NC_000006.10:g.10900026C>A | NCBI36 |
| NG_030040.1:g.51749G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354489.7:c.1184G>T (MAK) MANE Select | ENSP00000346484.3:p.Arg395Leu | |
| ENST00000536370.6:c.1184G>T (MAK) | ENSP00000442221.2:p.Arg395Leu | |
| ENST00000538030.3:c.1184G>T (MAK) | ENSP00000442250.1:p.Arg395Leu | |
| ENST00000675026.1:c.1184G>T (MAK) | ENSP00000502542.1:p.Arg395Leu | |
| ENST00000676116.1:c.1082G>T (MAK) | ENSP00000502045.1:p.Arg361Leu | |
| ENST00000313243.6:c.1184G>T (MAK) | ENSP00000313021.2:p.Arg395Leu | |
| ENST00000354489.6:c.1184G>T (MAK) | ENSP00000346484.3:p.Arg395Leu | |
| ENST00000460341.5:c.*120+21603C>A (TMEM14B) | ENSP00000417095.1:n.*120+21603C>A | |
| ENST00000463100.5:c.*120+21603C>A (TMEM14B) | ENSP00000419806.1:n.*120+21603C>A | |
| ENST00000463448.5:c.*120+21603C>A (TMEM14B) | ENSP00000419208.1:n.*120+21603C>A | |
| ENST00000467229.1:c.284+21603C>A (TMEM14B) | ||
| ENST00000473166.5:c.*120+21603C>A (TMEM14B) | ENSP00000417416.1:n.*120+21603C>A | |
| ENST00000473807.5:c.*121-10524C>A (TMEM14B) | ENSP00000419156.1:n.*121-10524C>A | |
| ENST00000474039.5:c.1184G>T (MAK) | ENSP00000476067.1:p.Arg395Leu | |
| ENST00000478732.1:c.265-10524C>A (TMEM14B) | ENSP00000418927.1:n.265-10524C>A | |
| ENST00000480294.1:c.100+42109C>A | ENSP00000417929.1:n.100+42109C>A | |
| ENST00000489137.1:n.128+21603C>A (TMEM14B) | ||
| ENST00000536370.5:c.1184G>T (MAK) | ENSP00000442221.2:p.Arg395Leu | |
| ENST00000538030.2:c.1184G>T (MAK) | ENSP00000442250.1:p.Arg395Leu | |
| NM_001242385.1:c.1184G>T (MAK) | NP_001229314.1:p.Arg395Leu | |
| NM_001242957.1:c.1184G>T (MAK) | NP_001229886.1:p.Arg395Leu | |
| NM_005906.4:c.1184G>T (MAK) | NP_005897.1:p.Arg395Leu | |
| XM_011514619.1:c.1184G>T (MAK) | XP_011512921.1:p.Arg395Leu | |
| XM_011514620.1:c.1184G>T (MAK) | XP_011512922.1:p.Arg395Leu | |
| XM_011514621.1:c.1127G>T (MAK) | XP_011512923.1:p.Arg376Leu | |
| XM_011514622.1:c.1184G>T (MAK) | XP_011512924.1:p.Arg395Leu | |
| XM_011514623.1:c.617G>T (MAK) | XP_011512925.1:p.Arg206Leu | |
| XM_011514624.1:c.404G>T (MAK) | XP_011512926.1:p.Arg135Leu | |
| XR_926215.1:n.1516G>T (MAK) | ||
| XR_926216.1:n.1552G>T (MAK) | ||
| XR_926217.1:n.1516G>T (MAK) | ||
| XR_926219.1:n.1516G>T (MAK) | ||
| XR_926220.1:n.1475+4191G>T (MAK) | ||
| XR_926221.1:n.1475+4191G>T (MAK) | ||
| NM_001242957.2:c.1184G>T (MAK) | NP_001229886.1:p.Arg395Leu | |
| NM_005906.5:c.1184G>T (MAK) | NP_005897.1:p.Arg395Leu | |
| NR_134935.1:n.1466G>T (MAK) | ||
| NR_134936.1:n.1555G>T (MAK) | ||
| XM_011514619.2:c.1184G>T (MAK) | XP_011512921.1:p.Arg395Leu | |
| XM_011514620.2:c.1184G>T (MAK) | XP_011512922.1:p.Arg395Leu | |
| XM_011514621.2:c.1127G>T (MAK) | XP_011512923.1:p.Arg376Leu | |
| XM_011514622.3:c.1184G>T (MAK) | XP_011512924.1:p.Arg395Leu | |
| XM_011514624.2:c.404G>T (MAK) | XP_011512926.1:p.Arg135Leu | |
| XM_017010863.2:c.1184G>T (MAK) | XP_016866352.1:p.Arg395Leu | |
| XM_017010864.2:c.1184G>T (MAK) | XP_016866353.1:p.Arg395Leu | |
| XM_017010865.1:c.1127G>T (MAK) | XP_016866354.1:p.Arg376Leu | |
| XM_017010866.2:c.1184G>T (MAK) | XP_016866355.1:p.Arg395Leu | |
| XM_024446443.1:c.617G>T (MAK) | XP_024302211.1:p.Arg206Leu | |
| XM_024446444.1:c.1143+4191G>T (MAK) | XP_024302212.1:n.1143+4191G>T | |
| XR_001743419.2:n.1413+4191G>T (MAK) | ||
| XR_002956283.1:n.1454G>T (MAK) | ||
| XR_926215.3:n.1454G>T (MAK) | ||
| XR_926220.3:n.1413+4191G>T (MAK) | ||
| NM_001242957.3:c.1184G>T (MAK) MANE Select | NP_001229886.1:p.Arg395Leu | |
| NM_001377262.1:c.1082G>T (MAK) | NP_001364191.1:p.Arg361Leu | |
| NM_005906.6:c.1184G>T (MAK) | NP_005897.1:p.Arg395Leu | |
| NR_134935.2:n.1450G>T (MAK) | ||
| NR_134936.2:n.1611G>T (MAK) | ||
| NM_001242385.2:c.1184G>T (MAK) | NP_001229314.1:p.Arg395Leu |