COSMIC:
COSN17134693
COSN17135626
COSN17136495
COSN17137432
COSN17138392
COSN17139305
COSN17142132
COSN17144088
COSN17146860
COSN17147767
COSN17148639
COSN17149549
COSN17150447
COSN17151415
COSN17152419
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45473775 (SAS)
Genomes Max Group AF
0.45473775 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.17813594C>T , CM000668.2:g.17813594C>T | GRCh38 |
| NC_000006.11:g.17813825C>T , CM000668.1:g.17813825C>T | GRCh37 |
| NC_000006.10:g.17921804C>T | NCBI36 |
| NG_029766.1:g.179030G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259711.11:c.2000+3426G>A MANE Select | ENSP00000259711.6:n.2000+3426G>A | |
| ENST00000636847.1:c.2120+3426G>A | ENSP00000490031.1:n.2120+3426G>A | |
| ENST00000259711.10:c.2000+3426G>A | ENSP00000259711.6:n.2000+3426G>A | |
| ENST00000358380.10:c.181+3426G>A | ||
| ENST00000378814.9:c.2000+3426G>A | ENSP00000368091.5:n.2000+3426G>A | |
| ENST00000378826.6:c.2000+3426G>A | ENSP00000368103.2:n.2000+3426G>A | |
| ENST00000378843.6:c.2000+3426G>A | ENSP00000368120.2:n.2000+3426G>A | |
| ENST00000503342.1:n.172-984G>A | ||
| NM_001105566.2:c.2000+3426G>A | NP_001099036.1:n.2000+3426G>A | |
| NM_001105567.2:c.2000+3426G>A | NP_001099037.1:n.2000+3426G>A | |
| NM_001105568.2:c.2000+3426G>A | NP_001099038.1:n.2000+3426G>A | |
| NM_022113.5:c.2000+3426G>A | NP_071396.4:n.2000+3426G>A | |
| XM_005249289.1:c.2120+3426G>A | XP_005249346.1:n.2120+3426G>A | |
| XM_005249290.1:c.2120+3426G>A | XP_005249347.1:n.2120+3426G>A | |
| XM_005249291.1:c.2120+3426G>A | XP_005249348.1:n.2120+3426G>A | |
| XM_005249292.1:c.2120+3426G>A | XP_005249349.1:n.2120+3426G>A | |
| XM_005249293.1:c.2120+3426G>A | XP_005249350.1:n.2120+3426G>A | |
| XM_006715166.1:c.1931+3426G>A | XP_006715229.1:n.1931+3426G>A | |
| XM_011514805.1:c.1787+3426G>A | XP_011513107.1:n.1787+3426G>A | |
| XM_017011188.1:c.2000+3426G>A | XP_016866677.1:n.2000+3426G>A | |
| XM_017011189.1:c.2000+3426G>A | XP_016866678.1:n.2000+3426G>A | |
| XM_017011190.1:c.2000+3426G>A | XP_016866679.1:n.2000+3426G>A | |
| XM_017011192.1:c.2000+3426G>A | XP_016866681.1:n.2000+3426G>A | |
| XM_017011193.1:c.1667+3426G>A | XP_016866682.1:n.1667+3426G>A | |
| NM_022113.6:c.2000+3426G>A MANE Select | NP_071396.4:n.2000+3426G>A | |
| NM_001105566.3:c.2000+3426G>A | NP_001099036.1:n.2000+3426G>A | |
| NM_001105567.3:c.2000+3426G>A | NP_001099037.1:n.2000+3426G>A | |
| NM_001105568.3:c.2000+3426G>A | NP_001099038.1:n.2000+3426G>A | |
| NM_001105568.4:c.2000+3426G>A | NP_001099038.1:n.2000+3426G>A |