Canonical Allele Identifier: CA285762
Gene: MMAB HGNC NCBI
ClinVar RCV:
RCV000082328
RCV000590350
RCV000611494
RCV001274799
ClinVar Variation:
96245
COSMIC:
COSM3752888
dbSNP:
9593
gnomAD v2:
12:109994870 A / T
gnomAD v3:
12:109557065 A / T
gnomAD v4:
chr12-109557065-A-T
Joint Max Group AF 0.72120119 (AFR)
Genomes Max Group AF 0.71721254 (AFR)
Exomes Max Group AF 0.72143571 (AFR)
MyVariant.info:
GRCh38 chr12:g.109557065A>T
GRCh37 chr12:g.109994870A>T
Revel Score:
ENST00000545712 (MANE Select) 0.215
ENST00000266839 0.215
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557065A>T , CM000674.2:g.109557065A>T GRCh38
NC_000012.11:g.109994870A>T , CM000674.1:g.109994870A>T GRCh37
NC_000012.10:g.108479253A>T NCBI36
NG_007096.1:g.21433T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.716T>A MANE Select ENSP00000445920.1:p.Met239Lys
ENST00000537496.5:c.*281T>A ENSP00000444793.1:n.*281T>A
ENST00000540016.5:c.560T>A ENSP00000474582.1:p.Met187Lys
ENST00000541763.6:c.941T>A ENSP00000474981.1:n.941T>A
ENST00000544051.5:c.*597T>A ENSP00000438079.1:n.*597T>A
ENST00000545712.6:c.716T>A ENSP00000445920.1:p.Met239Lys
NM_052845.3:c.716T>A NP_443077.1:p.Met239Lys
NR_038118.1:n.876T>A
XM_011538266.1:c.*63T>A XP_011536568.1:n.*63T>A
XM_011538267.1:c.*63T>A XP_011536569.1:n.*63T>A
XM_011538268.1:c.443T>A XP_011536570.1:p.Met148Lys
XM_011538269.1:c.440T>A XP_011536571.1:p.Met147Lys
XM_011538267.3:c.*63T>A XP_011536569.1:n.*63T>A
XM_011538268.2:c.443T>A XP_011536570.1:p.Met148Lys
XM_011538269.2:c.440T>A XP_011536571.1:p.Met147Lys
NM_052845.4:c.716T>A MANE Select NP_443077.1:p.Met239Lys
NR_038118.2:n.827T>A
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