ClinVar Variation:
COSMIC:
COSM4585723
COSM4585724
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00579837 (AFR)
Genomes Max Group AF
0.00527138 (AFR)
Exomes Max Group AF
0.00602864 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177204205C>T , CM000667.2:g.177204205C>T | GRCh38 |
| NC_000005.9:g.176631206C>T , CM000667.1:g.176631206C>T | GRCh37 |
| NC_000005.8:g.176563812C>T | NCBI36 |
| NG_009821.1:g.76127C>T , LRG_512:g.76127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.276C>T | ENSP00000423372.3:p.Ile92= | |
| ENST00000347982.9:c.276C>T | ENSP00000343209.5:p.Ile92= | |
| ENST00000354179.9:c.276C>T | ENSP00000346111.5:p.Ile92= | |
| ENST00000508896.6:c.276C>T | ENSP00000423372.2:p.Ile92= | |
| ENST00000510954.6:n.525C>T | ||
| ENST00000638627.3:c.93C>T | ENSP00000492679.3:p.Ile31= | |
| ENST00000644863.2:c.93C>T | ENSP00000496157.2:p.Ile31= | |
| ENST00000685206.1:n.732C>T | ||
| ENST00000686993.1:c.276C>T | ENSP00000510020.1:p.Ile92= | |
| ENST00000687453.1:c.928-5431C>T | ENSP00000508426.1:n.928-5431C>T | |
| ENST00000688613.1:n.546C>T | ||
| ENST00000689326.1:c.1149C>T | ENSP00000509594.1:p.Ile383= | |
| ENST00000689345.1:c.276C>T | ENSP00000509711.1:p.Ile92= | |
| ENST00000689549.1:n.1296C>T | ||
| ENST00000439151.7:c.1149C>T MANE Select | ENSP00000395929.2:p.Ile383= | |
| ENST00000638627.2:c.*242C>T | ENSP00000492679.2:n.*242C>T | |
| ENST00000644863.1:c.*458C>T | ENSP00000496157.1:n.*458C>T | |
| ENST00000347982.8:c.342C>T | ENSP00000343209.4:p.Ile114= | |
| ENST00000354179.8:c.342C>T | ENSP00000346111.4:p.Ile114= | |
| ENST00000439151.6:c.1149C>T | ENSP00000395929.2:p.Ile383= | |
| ENST00000508896.5:c.342C>T | ENSP00000423372.1:p.Ile114= | |
| ENST00000510954.5:c.342C>T | ENSP00000423982.1:p.Ile114= | |
| NM_022455.4:c.1149C>T , LRG_512t1:c.1149C>T | NP_071900.2:p.Ile383= | |
| NM_172349.2:c.342C>T | NP_758859.1:p.Ile114= | |
| XM_005265959.1:c.1149C>T | XP_005266016.1:p.Ile383= | |
| XM_005265960.1:c.342C>T | XP_005266017.1:p.Ile114= | |
| XM_005265961.1:c.342C>T | XP_005266018.1:p.Ile114= | |
| XM_011534610.1:c.1149C>T | XP_011532912.1:p.Ile383= | |
| XM_011534611.1:c.1149C>T | XP_011532913.1:p.Ile383= | |
| XM_011534612.1:c.729C>T | XP_011532914.1:p.Ile243= | |
| XM_011534613.1:c.93C>T | XP_011532915.1:p.Ile31= | |
| XM_011534614.1:c.1149C>T | XP_011532916.1:p.Ile383= | |
| XM_011534615.1:c.1149C>T | XP_011532917.1:p.Ile383= | |
| XM_011534616.1:c.1149C>T | XP_011532918.1:p.Ile383= | |
| NM_001365684.1:c.342C>T | NP_001352613.1:p.Ile114= | |
| XM_024446150.1:c.1149C>T | XP_024301918.1:p.Ile383= | |
| XM_024446151.1:c.1149C>T | XP_024301919.1:p.Ile383= | |
| XM_024446152.1:c.1149C>T | XP_024301920.1:p.Ile383= | |
| XM_024446153.1:c.1149C>T | XP_024301921.1:p.Ile383= | |
| XM_024446154.1:c.729C>T | XP_024301922.1:p.Ile243= | |
| XM_024446155.1:c.342C>T | XP_024301923.1:p.Ile114= | |
| XM_024446156.1:c.342C>T | XP_024301924.1:p.Ile114= | |
| XM_024446158.1:c.342C>T | XP_024301926.1:p.Ile114= | |
| XM_024446159.1:c.93C>T | XP_024301927.1:p.Ile31= | |
| XM_024446160.1:c.1149C>T | XP_024301928.1:p.Ile383= | |
| XM_024446161.1:c.1149C>T | XP_024301929.1:p.Ile383= | |
| XM_024446162.1:c.-2847C>T | XP_024301930.1:n.-2847C>T | |
| NM_022455.5:c.1149C>T MANE Select | NP_071900.2:p.Ile383= | |
| NM_172349.3:c.342C>T | NP_758859.1:p.Ile114= |