Linked Data
dbSNP Id:
rs749214770
ExAC:
19:6685040 G / A
gnomAD v2:
19-6685040-G-A
gnomAD v4:
19-6685029-G-A
COSMIC:
COSM1235794
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6685029G>A , CM000681.2:g.6685029G>A | GRCh38 |
| NC_000019.9:g.6685040G>A , CM000681.1:g.6685040G>A | GRCh37 |
| NC_000019.8:g.6636040G>A | NCBI36 |
| NG_009557.1:g.40623C>T , LRG_27:g.40623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2276C>T | ||
| ENST00000695653.1:c.1837C>T | ENSP00000512084.1:p.Arg613Cys | |
| ENST00000695654.1:c.2953C>T | ENSP00000512085.1:p.Arg985Cys | |
| ENST00000695690.1:n.119C>T | ||
| ENST00000695691.1:n.119C>T | ||
| ENST00000245907.11:c.3928C>T MANE Select | ENSP00000245907.4:p.Arg1310Cys | |
| ENST00000245907.10:c.3928C>T | ENSP00000245907.4:p.Arg1310Cys | |
| ENST00000596238.1:n.371C>T | ||
| ENST00000596548.1:c.10C>T | ENSP00000469744.1:p.Arg4Cys | |
| ENST00000601008.1:c.241+1717C>T | ENSP00000471384.1:n.241+1717C>T | |
| NM_000064.3:c.3928C>T | NP_000055.2:p.Arg1310Cys | |
| NM_000064.4:c.3928C>T MANE Select | NP_000055.2:p.Arg1310Cys |