ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM5973084
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005855 (MID)
Genomes Max Group AF
0.00002258 (AMR)
Exomes Max Group AF
0.00006133 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49808759C>A , CM000681.2:g.49808759C>A | GRCh38 |
| NC_000019.9:g.50312016C>A , CM000681.1:g.50312016C>A | GRCh37 |
| NC_000019.8:g.55003828C>A | NCBI36 |
| NG_032843.1:g.9552G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313777.9:c.851G>T MANE Select | ENSP00000313309.4:p.Arg284Leu | |
| ENST00000313777.8:c.851G>T | ENSP00000313309.4:p.Arg284Leu | |
| ENST00000377092.8:c.*591G>T | ENSP00000366296.5:n.*591G>T | |
| ENST00000525130.5:c.*505G>T | ENSP00000433492.1:n.*505G>T | |
| ENST00000525370.5:c.*505G>T | ENSP00000431420.1:n.*505G>T | |
| ENST00000527973.1:n.511G>T | ||
| ENST00000528094.5:c.743G>T | ENSP00000435177.1:p.Arg248Leu | |
| ENST00000533418.5:c.701G>T | ENSP00000431731.1:p.Arg234Leu | |
| ENST00000534138.1:n.67G>T | ||
| NM_001171937.1:c.743G>T | NP_001165408.1:p.Arg248Leu | |
| NM_025129.4:c.851G>T | NP_079405.2:p.Arg284Leu | |
| NR_033269.1:n.970G>T | ||
| XM_006723399.2:c.851G>T | XP_006723462.1:p.Arg284Leu | |
| XM_011527339.1:c.851G>T | XP_011525641.1:p.Arg284Leu | |
| XM_011527340.1:c.701G>T | XP_011525642.1:p.Arg234Leu | |
| XM_011527341.1:c.701G>T | XP_011525643.1:p.Arg234Leu | |
| XM_011527342.1:c.680G>T | XP_011525644.1:p.Arg227Leu | |
| XM_011527343.1:c.851G>T | XP_011525645.1:p.Arg284Leu | |
| XM_011527344.1:c.653G>T | XP_011525646.1:p.Arg218Leu | |
| XM_011527345.1:c.551G>T | XP_011525647.1:p.Arg184Leu | |
| XM_011527346.1:c.551G>T | XP_011525648.1:p.Arg184Leu | |
| XM_011527347.1:c.551G>T | XP_011525649.1:p.Arg184Leu | |
| XR_935862.1:n.1033G>T | ||
| XR_935863.1:n.1311G>T | ||
| NM_001352262.1:c.851G>T | NP_001339191.1:p.Arg284Leu | |
| NM_001363663.1:c.701G>T | NP_001350592.1:p.Arg234Leu | |
| XM_006723399.3:c.851G>T | XP_006723462.1:p.Arg284Leu | |
| XM_011527341.2:c.701G>T | XP_011525643.1:p.Arg234Leu | |
| XM_011527342.2:c.680G>T | XP_011525644.1:p.Arg227Leu | |
| XM_017027320.1:c.851G>T | XP_016882809.1:p.Arg284Leu | |
| XM_017027321.1:c.551G>T | XP_016882810.1:p.Arg184Leu | |
| XM_017027322.2:c.701G>T | XP_016882811.1:p.Arg234Leu | |
| XM_017027323.1:c.787-121G>T | XP_016882812.1:n.787-121G>T | |
| XM_024451729.1:c.680G>T | XP_024307497.1:p.Arg227Leu | |
| XM_024451730.1:c.680G>T | XP_024307498.1:p.Arg227Leu | |
| XR_001753764.1:n.1033G>T | ||
| XR_001753765.1:n.969-121G>T | ||
| XR_002958363.1:n.1033G>T | ||
| XR_002958364.1:n.1033G>T | ||
| XR_002958365.1:n.969-121G>T | ||
| NM_001171937.2:c.743G>T | NP_001165408.1:p.Arg248Leu | |
| NM_001352262.2:c.851G>T | NP_001339191.1:p.Arg284Leu | |
| NM_025129.5:c.851G>T MANE Select | NP_079405.2:p.Arg284Leu | |
| NR_033269.2:n.952G>T |