Linked Data
dbSNP Id:
rs767578020
ExAC:
19:36339573 C / T
gnomAD v2:
19-36339573-C-T
gnomAD v3:
19-35848671-C-T
gnomAD v4:
19-35848671-C-T
COSMIC:
COSM6370022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848671C>T , CM000681.2:g.35848671C>T | GRCh38 |
| NC_000019.9:g.36339573C>T , CM000681.1:g.36339573C>T | GRCh37 |
| NC_000019.8:g.41031413C>T | NCBI36 |
| NG_013356.2:g.25617G>A , LRG_693:g.25617G>A | |
| NG_051206.1:g.2037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1136G>A MANE Select | ENSP00000368190.4:p.Arg379Gln | |
| ENST00000353632.6:c.1136G>A | ENSP00000343634.5:p.Arg379Gln | |
| ENST00000378910.9:c.1136G>A | ENSP00000368190.4:p.Arg379Gln | |
| ENST00000592132.1:n.143G>A | ||
| NM_004646.3:c.1136G>A , LRG_693t1:c.1136G>A | NP_004637.1:p.Arg379Gln | |
| NM_004646.4:c.1136G>A MANE Select | NP_004637.1:p.Arg379Gln |