Canonical Allele Identifier: CA368987178
Gene: MET HGNC NCBI

Linked Data

ClinVar Variation Id: 1798731
ClinVar RCV Id: RCV002435702
dbSNP Id: rs1258377870

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116771911G>C , CM000669.2:g.116771911G>C GRCh38
NC_000007.13:g.116411965G>C , CM000669.1:g.116411965G>C GRCh37
NC_000007.12:g.116199201G>C NCBI36
NG_008996.1:g.104507G>C , LRG_662:g.104507G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000436117.3:c.*555G>C ENSP00000410980.2:n.*555G>C
ENST00000318493.11:c.3004G>C ENSP00000317272.6:p.Val1002Leu
ENST00000397752.8:c.2950G>C MANE Select ENSP00000380860.3:p.Val984Leu
ENST00000318493.10:c.3004G>C ENSP00000317272.6:p.Val1002Leu
ENST00000397752.7:c.2950G>C ENSP00000380860.3:p.Val984Leu
ENST00000454623.1:c.283+257G>C ENSP00000398140.1:n.283+257G>C
NM_000245.2:c.2950G>C NP_000236.2:p.Val984Leu
NM_001127500.1:c.3004G>C , LRG_662t1:c.3004G>C NP_001120972.1:p.Val1002Leu
XM_006715990.2:c.1660G>C XP_006716053.1:p.Val554Leu
XM_006715991.2:c.1660G>C XP_006716054.1:p.Val554Leu
XM_011516223.1:c.3007G>C XP_011514525.1:p.Val1003Leu
NM_000245.3:c.2950G>C NP_000236.2:p.Val984Leu
NM_001127500.2:c.3004G>C NP_001120972.1:p.Val1002Leu
NM_001324402.1:c.1660G>C NP_001311331.1:p.Val554Leu
XR_001744772.1:n.3081G>C
NM_001127500.3:c.3004G>C NP_001120972.1:p.Val1002Leu
NM_000245.4:c.2950G>C MANE Select NP_000236.2:p.Val984Leu
NM_001324402.2:c.1660G>C NP_001311331.1:p.Val554Leu