Linked Data
ClinVar Variation Id:
30221
dbSNP Id:
rs387906822
ExAC:
5:38925342 C / T
gnomAD v2:
5-38925342-C-T
gnomAD v4:
5-38925240-C-T
COSMIC:
COSM3787059
MyVariant Identifiers:
chr5:g.38925342C>T (hg19)
chr5:g.38925342_38925343delinsTG (hg19)
chr5:g.38925240C>T (hg38)
PubMed:
PMID:19690585
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38925240C>T , CM000667.2:g.38925240C>T | GRCh38 |
| NC_000005.9:g.38925342C>T , CM000667.1:g.38925342C>T | GRCh37 |
| NC_000005.8:g.38961099C>T | NCBI36 |
| NG_016236.1:g.84383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274276.8:c.2081C>T MANE Select | ENSP00000274276.3:p.Pro694Leu | |
| ENST00000274276.7:c.2081C>T | ENSP00000274276.3:p.Pro694Leu | |
| NM_003999.2:c.2081C>T | NP_003990.1:p.Pro694Leu | |
| XM_005248384.1:c.2084C>T | XP_005248441.1:p.Pro695Leu | |
| XM_005248385.1:c.2084C>T | XP_005248442.1:p.Pro695Leu | |
| XM_011514161.1:c.2084C>T | XP_011512463.1:p.Pro695Leu | |
| XR_925661.1:n.2473C>T | ||
| NM_001323505.1:c.2081C>T | NP_001310434.1:p.Pro694Leu | |
| NM_001323506.1:c.2084C>T | NP_001310435.1:p.Pro695Leu | |
| XM_011514161.2:c.2084C>T | XP_011512463.1:p.Pro695Leu | |
| XM_017010019.1:c.2081C>T | XP_016865508.1:p.Pro694Leu | |
| NM_003999.3:c.2081C>T MANE Select | NP_003990.1:p.Pro694Leu | |
| NM_001323505.2:c.2081C>T | NP_001310434.1:p.Pro694Leu | |
| NM_001323506.2:c.2084C>T | NP_001310435.1:p.Pro695Leu |