COSMIC:
COSM3735940 (not active)
COSM3735941 (not active)
Revel Score:
ENST00000446728
0.014
ENST00000367795
0.008
ENST00000367790
0.008
ENST00000426706
0.008
ENST00000367789
0.008
ENST00000263686 (MANE Select)
0.008
ENST00000544572
0.008
ENST00000367793
0.008
ENST00000367794
0.008
ENST00000367792
0.008
ENST00000367791
0.008
ENST00000367788
0.008
ENST00000367786
0.008
ENST00000458599
0.008
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55860762 (AFR)
Genomes Max Group AF
0.550072 (AFR)
Exomes Max Group AF
0.56502776 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169596108C>A , CM000663.2:g.169596108C>A | GRCh38 |
| NC_000001.10:g.169565346C>A , CM000663.1:g.169565346C>A | GRCh37 |
| NC_000001.9:g.167831970C>A | NCBI36 |
| NG_012125.1:g.39032G>T | |
| NG_012125.2:g.39032G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263686.11:c.1918G>T MANE Select | ENSP00000263686.5:p.Val640Leu | |
| ENST00000263686.10:c.1918G>T | ENSP00000263686.5:p.Val640Leu | |
| ENST00000367786.6:c.1732G>T | ENSP00000356760.1:p.Val578Leu | |
| ENST00000367788.6:c.1732G>T | ENSP00000356762.1:p.Val578Leu | |
| ENST00000426706.6:c.1915G>T | ENSP00000391694.2:p.Val639Leu | |
| ENST00000458599.6:c.1366G>T | ENSP00000399368.2:p.Val456Leu | |
| NM_003005.3:c.1918G>T | NP_002996.2:p.Val640Leu | |
| XM_005245435.1:c.1918G>T | XP_005245492.1:p.Val640Leu | |
| XM_005245436.2:c.1918G>T | XP_005245493.1:p.Val640Leu | |
| XM_005245438.1:c.1918G>T | XP_005245495.1:p.Val640Leu | |
| XM_005245439.1:c.1918G>T | XP_005245496.1:p.Val640Leu | |
| XM_005245440.1:c.1732G>T | XP_005245497.1:p.Val578Leu | |
| XM_005245435.2:c.1918G>T | XP_005245492.1:p.Val640Leu | |
| XM_005245436.4:c.1918G>T | XP_005245493.1:p.Val640Leu | |
| XM_005245438.2:c.1918G>T | XP_005245495.1:p.Val640Leu | |
| XM_005245439.2:c.1918G>T | XP_005245496.1:p.Val640Leu | |
| XM_005245440.2:c.1732G>T | XP_005245497.1:p.Val578Leu | |
| NM_003005.4:c.1918G>T MANE Select | NP_002996.2:p.Val640Leu |