Canonical Allele Identifier: CA9847772
Gene: SRC HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.37394136T>C
GRCh37 chr20:g.36022539T>C
gnomAD v2:
20:36022539 T / C
gnomAD v3:
20:37394136 T / C
gnomAD v4:
chr20-37394136-T-C
Joint Max Group AF 0.47543083 (AFR)
Genomes Max Group AF 0.46957757 (AFR)
Exomes Max Group AF 0.47890504 (AFR)
dbSNP:
6018257
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37394136T>C , CM000682.2:g.37394136T>C GRCh38
NC_000020.10:g.36022539T>C , CM000682.1:g.36022539T>C GRCh37
NC_000020.9:g.35455953T>C NCBI36
NG_023033.1:g.54452T>C , LRG_1018:g.54452T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358208.9:c.501-38T>C ENSP00000350941.5:n.501-38T>C
ENST00000692112.1:c.450-38T>C ENSP00000508666.1:n.450-38T>C
ENST00000692423.1:c.450-38T>C ENSP00000509325.1:n.450-38T>C
ENST00000373578.7:c.450-38T>C MANE Select ENSP00000362680.2:n.450-38T>C
ENST00000358208.8:c.450-38T>C ENSP00000350941.4:n.450-38T>C
ENST00000373558.2:c.468-38T>C ENSP00000362659.2:n.468-38T>C
ENST00000373567.6:c.450-38T>C ENSP00000362668.2:n.450-38T>C
ENST00000373578.6:c.450-38T>C ENSP00000362680.2:n.450-38T>C
ENST00000472968.1:n.423T>C
ENST00000489153.1:n.250-38T>C
NM_005417.4:c.450-38T>C NP_005408.1:n.450-38T>C
NM_198291.2:c.450-38T>C , LRG_1018t1:c.450-38T>C NP_938033.1:n.450-38T>C
XM_011529013.1:c.450-38T>C XP_011527315.1:n.450-38T>C
XM_011529014.1:c.450-38T>C XP_011527316.1:n.450-38T>C
XM_011529013.2:c.450-38T>C XP_011527315.1:n.450-38T>C
XM_017028024.1:c.468-38T>C XP_016883513.1:n.468-38T>C
XM_017028025.1:c.468-38T>C XP_016883514.1:n.468-38T>C
XM_017028026.1:c.468-38T>C XP_016883515.1:n.468-38T>C
XM_017028027.2:c.468-38T>C XP_016883516.1:n.468-38T>C
NM_005417.5:c.450-38T>C NP_005408.1:n.450-38T>C
NM_198291.3:c.450-38T>C MANE Select NP_938033.1:n.450-38T>C
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