COSMIC:
COSM4003638 (not active)
Revel Score:
ENST00000369162 (MANE Select)
0.114
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20634131 (AFR)
Genomes Max Group AF
0.20337489 (AFR)
Exomes Max Group AF
0.20750003 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.100509468T>C , CM000668.2:g.100509468T>C | GRCh38 |
| NC_000006.11:g.100957344T>C , CM000668.1:g.100957344T>C | GRCh37 |
| NC_000006.10:g.101064065T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369162.7:c.6527A>G MANE Select | ENSP00000358159.2:p.Tyr2176Cys | |
| ENST00000369162.6:c.6527A>G | ENSP00000358159.2:p.Tyr2176Cys | |
| ENST00000518006.1:n.443A>G | ||
| NM_006828.3:c.6527A>G | NP_006819.2:p.Tyr2176Cys | |
| XM_011535394.1:c.6542A>G | XP_011533696.1:p.Tyr2181Cys | |
| XM_011535395.1:c.6233A>G | XP_011533697.1:p.Tyr2078Cys | |
| XM_011535396.1:c.6233A>G | XP_011533698.1:p.Tyr2078Cys | |
| XM_011535394.3:c.6542A>G | XP_011533696.1:p.Tyr2181Cys | |
| XM_011535395.3:c.6233A>G | XP_011533697.1:p.Tyr2078Cys | |
| XM_011535396.3:c.6233A>G | XP_011533698.1:p.Tyr2078Cys | |
| XM_017010205.2:c.6233A>G | XP_016865694.1:p.Tyr2078Cys | |
| XM_017010206.2:c.5108A>G | XP_016865695.1:p.Tyr1703Cys | |
| XM_024446316.1:c.5729A>G | XP_024302084.1:p.Tyr1910Cys | |
| NM_006828.4:c.6527A>G MANE Select | NP_006819.2:p.Tyr2176Cys |