Linked Data
dbSNP Id:
rs762750068
ExAC:
11:57373654 G / A
gnomAD v2:
11-57373654-G-A
gnomAD v3:
11-57606181-G-A
gnomAD v4:
11-57606181-G-A
COSMIC:
COSM4725087
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57606181G>A , CM000673.2:g.57606181G>A | GRCh38 |
| NC_000011.9:g.57373654G>A , CM000673.1:g.57373654G>A | GRCh37 |
| NC_000011.8:g.57130230G>A | NCBI36 |
| NG_009625.1:g.13628G>A , LRG_105:g.13628G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.857G>A MANE Select | ENSP00000278407.4:p.Arg286His | |
| ENST00000528996.2:c.59-5545G>A | ENSP00000431226.2:n.59-5545G>A | |
| ENST00000531605.2:c.*633G>A | ENSP00000503752.1:n.*633G>A | |
| ENST00000619430.2:c.686-227G>A | ENSP00000478572.2:n.686-227G>A | |
| ENST00000676670.1:c.857G>A | ENSP00000504807.1:p.Arg286His | |
| ENST00000676741.1:n.1939G>A | ||
| ENST00000677624.1:c.*277G>A | ENSP00000503979.1:n.*277G>A | |
| ENST00000677625.1:c.857G>A | ENSP00000502857.1:p.Arg286His | |
| ENST00000677856.1:n.916G>A | ||
| ENST00000677915.1:c.685+4012G>A | ENSP00000503118.1:n.685+4012G>A | |
| ENST00000678533.1:c.*411G>A | ENSP00000503873.1:n.*411G>A | |
| ENST00000678592.1:c.857G>A | ENSP00000504424.1:p.Arg286His | |
| ENST00000278407.8:c.857G>A | ENSP00000278407.4:p.Arg286His | |
| ENST00000340687.10:c.857G>A | ENSP00000341861.6:p.Arg286His | |
| ENST00000378323.8:c.872G>A | ENSP00000367574.4:p.Arg291His | |
| ENST00000378324.6:c.701G>A | ENSP00000367575.2:p.Arg234His | |
| ENST00000403558.1:c.959G>A | ENSP00000384420.1:p.Arg320His | |
| ENST00000531133.5:c.358G>A | ENSP00000435431.1:n.358G>A | |
| ENST00000531797.5:c.*54+4012G>A | ENSP00000432554.1:n.*54+4012G>A | |
| ENST00000619430.1:c.349-5724G>A | ENSP00000478572.1:n.349-5724G>A | |
| NM_000062.2:c.857G>A , LRG_105t1:c.857G>A | NP_000053.2:p.Arg286His | |
| NM_001032295.1:c.857G>A | NP_001027466.1:p.Arg286His | |
| NM_000062.3:c.857G>A MANE Select | NP_000053.2:p.Arg286His | |
| NM_001032295.2:c.857G>A | NP_001027466.1:p.Arg286His |