COSMIC:
COSM3755458 (not active)
COSM3755459 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49458116 (MID)
Genomes Max Group AF
0.45473775 (SAS)
Exomes Max Group AF
0.49520021 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40023239A>G , CM000679.2:g.40023239A>G | GRCh38 |
| NC_000017.10:g.38179492A>G , CM000679.1:g.38179492A>G | GRCh37 |
| NC_000017.9:g.35433018A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394128.7:c.2142T>C MANE Select | ENSP00000377686.2:p.Ile714= | |
| ENST00000356271.7:c.2103T>C | ENSP00000348610.3:p.Ile701= | |
| ENST00000394126.5:c.2217T>C | ENSP00000377684.1:p.Ile739= | |
| ENST00000394127.6:c.2103T>C | ENSP00000377685.2:p.Ile701= | |
| ENST00000394128.6:c.2142T>C | ENSP00000377686.2:p.Ile714= | |
| ENST00000492176.2:n.413T>C | ||
| ENST00000501516.7:c.2199T>C | ENSP00000440100.2:p.Ile733= | |
| ENST00000535071.6:c.1992T>C | ENSP00000443344.2:p.Ile664= | |
| ENST00000535508.6:c.*1765T>C | ENSP00000439148.2:n.*1765T>C | |
| ENST00000580720.1:n.452T>C | ||
| ENST00000614384.4:c.274-3947T>C | ENSP00000482676.1:n.274-3947T>C | |
| NM_001079518.1:c.2103T>C | NP_001072986.1:p.Ile701= | |
| NM_001267797.1:c.2103T>C | NP_001254726.1:p.Ile701= | |
| NM_014815.3:c.2142T>C | NP_055630.2:p.Ile714= | |
| NR_052017.1:n.2381T>C | ||
| XM_005257874.1:c.2217T>C | XP_005257931.1:p.Ile739= | |
| XM_006722204.1:c.2253T>C | XP_006722267.1:p.Ile751= | |
| XM_006722206.1:c.2178T>C | XP_006722269.1:p.Ile726= | |
| XM_006722207.1:c.2178T>C | XP_006722270.1:p.Ile726= | |
| XM_011525529.1:c.2310T>C | XP_011523831.1:p.Ile770= | |
| XM_011525530.1:c.2199T>C | XP_011523832.1:p.Ile733= | |
| XM_011525531.1:c.2142T>C | XP_011523833.1:p.Ile714= | |
| XM_011525532.1:c.2235T>C | XP_011523834.1:p.Ile745= | |
| XM_011525533.1:c.2235T>C | XP_011523835.1:p.Ile745= | |
| XM_011525534.1:c.2235T>C | XP_011523836.1:p.Ile745= | |
| XM_011525535.1:c.2235T>C | XP_011523837.1:p.Ile745= | |
| XM_011525536.1:c.2199T>C | XP_011523838.1:p.Ile733= | |
| XM_011525537.1:c.2235T>C | XP_011523839.1:p.Ile745= | |
| XM_011525538.1:c.1887T>C | XP_011523840.1:p.Ile629= | |
| XR_934627.1:n.2272T>C | ||
| NM_001330211.1:c.2199T>C | NP_001317140.1:p.Ile733= | |
| NM_014815.4:c.2142T>C MANE Select | NP_055630.2:p.Ile714= | |
| NM_001079518.2:c.2103T>C | NP_001072986.1:p.Ile701= | |
| NM_001267797.2:c.2103T>C | NP_001254726.1:p.Ile701= | |
| NM_001330211.2:c.2199T>C | NP_001317140.1:p.Ile733= | |
| NR_052017.2:n.2153T>C |