Linked Data
ClinVar Variation Id:
56455
ClinVar RCV Id:
RCV000049868
dbSNP Id:
rs386833897
gnomAD v2:
19-36342442-C-G
gnomAD v3:
19-35851540-C-G
gnomAD v4:
19-35851540-C-G
PubMed:
PMID:9915943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35851540C>G , CM000681.2:g.35851540C>G | GRCh38 |
| NC_000019.9:g.36342442C>G , CM000681.1:g.36342442C>G | GRCh37 |
| NC_000019.8:g.41034282C>G | NCBI36 |
| NG_013356.2:g.22748G>C , LRG_693:g.22748G>C | |
| NG_051206.1:g.4906C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.191G>C MANE Select | ENSP00000368190.4:p.Trp64Ser | |
| ENST00000353632.6:c.191G>C | ENSP00000343634.5:p.Trp64Ser | |
| ENST00000378910.9:c.191G>C | ENSP00000368190.4:p.Trp64Ser | |
| NM_004646.3:c.191G>C , LRG_693t1:c.191G>C | NP_004637.1:p.Trp64Ser | |
| NM_004646.4:c.191G>C MANE Select | NP_004637.1:p.Trp64Ser |