COSMIC:
COSN6644781 (not active)
COSN6644782 (not active)
COSN17076252 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58058524 (AFR)
Genomes Max Group AF
0.58109074 (AFR)
Exomes Max Group AF
0.44724005 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2089126A>T , CM000678.2:g.2089126A>T | GRCh38 |
| NC_000016.9:g.2139127A>T , CM000678.1:g.2139127A>T | GRCh37 |
| NC_000016.8:g.2079128A>T | NCBI36 |
| NG_005895.1:g.44821A>T , LRG_487:g.44821A>T | |
| NG_008617.1:g.54095T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219476.9:c.*516A>T (TSC2) MANE Select | ENSP00000219476.3:n.*516A>T | |
| ENST00000262304.9:c.*601T>A (PKD1) MANE Select | ENSP00000262304.4:n.*601T>A | |
| ENST00000642791.1:n.1537A>T (TSC2) | ||
| ENST00000643088.1:c.*516A>T (TSC2) | ENSP00000494747.1:n.*516A>T | |
| ENST00000643946.1:c.*516A>T (TSC2) | ENSP00000495927.1:n.*516A>T | |
| ENST00000262304.8:c.*601T>A (PKD1) | ENSP00000262304.4:n.*601T>A | |
| ENST00000423118.5:c.*601T>A (PKD1) | ENSP00000399501.1:n.*601T>A | |
| NM_000296.3:c.*601T>A (PKD1) | NP_000287.3:n.*601T>A | |
| NM_001009944.2:c.*601T>A (PKD1) | NP_001009944.2:n.*601T>A | |
| XM_005255370.2:c.*601T>A (PKD1) | XP_005255427.1:n.*601T>A | |
| XM_011522525.1:c.*601T>A (PKD1) | XP_011520827.1:n.*601T>A | |
| XM_011522526.1:c.*601T>A (PKD1) | XP_011520828.1:n.*601T>A | |
| XM_011522527.1:c.*601T>A (PKD1) | XP_011520829.1:n.*601T>A | |
| XM_011522528.1:c.*601T>A (PKD1) | XP_011520830.1:n.*601T>A | |
| XM_011522529.1:c.*601T>A (PKD1) | XP_011520831.1:n.*601T>A | |
| XM_011522530.1:c.*601T>A (PKD1) | XP_011520832.1:n.*601T>A | |
| XM_011522531.1:c.*601T>A (PKD1) | XP_011520833.1:n.*601T>A | |
| XM_011522532.1:c.*601T>A (PKD1) | XP_011520834.1:n.*601T>A | |
| XM_011522533.1:c.*601T>A (PKD1) | XP_011520835.1:n.*601T>A | |
| XM_011522534.1:c.*601T>A (PKD1) | XP_011520836.1:n.*601T>A | |
| XM_011522535.1:c.*601T>A (PKD1) | XP_011520837.1:n.*601T>A | |
| XM_011522537.1:c.*601T>A (PKD1) | XP_011520839.1:n.*601T>A | |
| XM_005255370.3:c.*601T>A (PKD1) | XP_005255427.1:n.*601T>A | |
| XM_011522528.3:c.*601T>A (PKD1) | XP_011520830.1:n.*601T>A | |
| XM_011522529.2:c.*601T>A (PKD1) | XP_011520831.1:n.*601T>A | |
| XM_011522537.2:c.*601T>A (PKD1) | XP_011520839.1:n.*601T>A | |
| XM_024450298.1:c.*601T>A (PKD1) | XP_024306066.1:n.*601T>A | |
| XM_024450299.1:c.*601T>A (PKD1) | XP_024306067.1:n.*601T>A | |
| XM_024450300.1:c.*601T>A (PKD1) | XP_024306068.1:n.*601T>A | |
| XM_024450301.1:c.*601T>A (PKD1) | XP_024306069.1:n.*601T>A | |
| NM_000548.5:c.*516A>T (TSC2) MANE Select | NP_000539.2:n.*516A>T | |
| NM_000296.4:c.*601T>A (PKD1) | NP_000287.4:n.*601T>A | |
| NM_001009944.3:c.*601T>A (PKD1) MANE Select | NP_001009944.3:n.*601T>A | |
| NM_001370404.1:c.*516A>T (TSC2) | NP_001357333.1:n.*516A>T | |
| NM_001370405.1:c.*516A>T (TSC2) | NP_001357334.1:n.*516A>T | |
| NM_001077183.3:c.*516A>T (TSC2) | NP_001070651.1:n.*516A>T | |
| NM_001114382.3:c.*516A>T (TSC2) | NP_001107854.1:n.*516A>T | |
| NM_001318827.2:c.*516A>T (TSC2) | NP_001305756.1:n.*516A>T | |
| NM_001318829.2:c.*516A>T (TSC2) | NP_001305758.1:n.*516A>T | |
| NM_001318831.2:c.*516A>T (TSC2) | NP_001305760.1:n.*516A>T | |
| NM_001318832.2:c.*516A>T (TSC2) | NP_001305761.1:n.*516A>T | |
| NM_001363528.2:c.*516A>T (TSC2) | NP_001350457.1:n.*516A>T | |
| NM_021055.3:c.*516A>T (TSC2) | NP_066399.2:n.*516A>T |