COSMIC:
COSM147626 (not active)
Revel Score:
ENST00000546057
0.064
ENST00000328963 (MANE Select)
0.064
ENST00000535250
0.064
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3891407 (EAS)
Genomes Max Group AF
0.40655898 (EAS)
Exomes Max Group AF
0.38530595 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121167552G>A , CM000674.2:g.121167552G>A | GRCh38 |
| NC_000012.11:g.121605355G>A , CM000674.1:g.121605355G>A | GRCh37 |
| NC_000012.10:g.120089738G>A | NCBI36 |
| NG_011471.2:g.39678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.809G>A MANE Select | ENSP00000330696.6:p.Arg270His | |
| ENST00000261826.10:c.*262G>A | ENSP00000261826.6:n.*262G>A | |
| ENST00000328963.9:c.809G>A | ENSP00000330696.6:p.Arg270His | |
| ENST00000535250.5:c.809G>A | ENSP00000442572.2:p.Arg270His | |
| ENST00000535600.2:c.614+2115G>A | ENSP00000442470.1:n.614+2115G>A | |
| ENST00000537312.5:c.*496G>A | ENSP00000438586.1:n.*496G>A | |
| ENST00000538011.5:c.948G>A | ENSP00000439247.1:n.948G>A | |
| ENST00000539606.5:c.948G>A | ENSP00000445325.1:n.948G>A | |
| ENST00000539695.5:n.966+1365G>A | ||
| ENST00000541022.5:c.671+1365G>A | ENSP00000441230.1:n.671+1365G>A | |
| ENST00000541564.5:c.744+1365G>A | ENSP00000443640.1:n.744+1365G>A | |
| ENST00000541716.5:c.736G>A | ENSP00000437729.1:n.736G>A | |
| NM_002562.5:c.809G>A | NP_002553.3:p.Arg270His | |
| NR_033948.1:n.1091G>A | ||
| NR_033949.1:n.1091G>A | ||
| NR_033950.1:n.1040+1365G>A | ||
| NR_033951.1:n.952G>A | ||
| NR_033952.1:n.879G>A | ||
| NR_033953.1:n.792G>A | ||
| NR_033954.1:n.855G>A | ||
| NR_033955.1:n.887+1365G>A | ||
| NR_033956.1:n.814+1365G>A | ||
| XM_011538418.1:c.614+2115G>A | XP_011536720.1:n.614+2115G>A | |
| XM_011538419.1:c.497G>A | XP_011536721.1:p.Arg166His | |
| XM_011538420.1:c.14+1365G>A | XP_011536722.1:n.14+1365G>A | |
| XR_945459.1:n.190-5135C>T | ||
| XR_945460.1:n.299-5135C>T | ||
| XM_011538419.3:c.497G>A | XP_011536721.1:p.Arg166His | |
| XM_011538420.3:c.14+1365G>A | XP_011536722.1:n.14+1365G>A | |
| XM_017019364.2:c.449G>A | XP_016874853.1:p.Arg150His | |
| XM_017019365.2:c.449G>A | XP_016874854.1:p.Arg150His | |
| XM_017019366.2:c.56G>A | XP_016874855.1:p.Arg19His | |
| XM_017019367.2:c.56G>A | XP_016874856.1:p.Arg19His | |
| XR_001749352.2:n.186+35946C>T | ||
| XR_001749353.2:n.304-5135C>T | ||
| XR_001749354.2:n.186+35946C>T | ||
| XR_945459.3:n.187-5135C>T | ||
| XR_945460.3:n.299-5135C>T | ||
| NM_002562.6:c.809G>A MANE Select | NP_002553.3:p.Arg270His | |
| NR_033948.2:n.1043G>A | ||
| NR_033949.2:n.1043G>A | ||
| NR_033950.2:n.992+1365G>A | ||
| NR_033951.2:n.904G>A | ||
| NR_033952.2:n.831G>A | ||
| NR_033953.2:n.735G>A | ||
| NR_033954.2:n.807G>A | ||
| NR_033955.2:n.839+1365G>A | ||
| NR_033956.2:n.766+1365G>A |