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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.124405570A= , CM000672.2:g.124405570A=
GRCh38
NC_000010.10:g.126094139A= , CM000672.1:g.126094139A=
GRCh37
NC_000010.9:g.126084129A=
NCBI36
NG_008861.1:g.18381T= , LRG_685:g.18381T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368845.6:c.521-7T=
MANE Select
ENSP00000357838.5:n.521-7T=
ENST00000368845.5:c.521-7T=
ENSP00000357838.5:n.521-7T=
ENST00000467675.5:n.322-7T=
ENST00000483711.1:n.360T=
ENST00000539214.5:c.107-7T=
ENSP00000439042.1:n.107-7T=
NM_000274.3:c.521-7T= , LRG_685t1:c.521-7T=
NP_000265.1:n.521-7T=
NM_001171814.1:c.107-7T=
NP_001165285.1:n.107-7T=
XM_006717871.2:c.521-7T=
XP_006717934.1:n.521-7T=
XM_011539833.1:c.521-7T=
XP_011538135.1:n.521-7T=
XM_011539834.1:c.521-7T=
XP_011538136.1:n.521-7T=
NM_001322965.1:c.521-7T=
NP_001309894.1:n.521-7T=
NM_001322966.1:c.521-7T=
NP_001309895.1:n.521-7T=
NM_001322967.1:c.521-7T=
NP_001309896.1:n.521-7T=
NM_001322968.1:c.521-7T=
NP_001309897.1:n.521-7T=
NM_001322969.1:c.521-7T=
NP_001309898.1:n.521-7T=
NM_001322970.1:c.521-7T=
NP_001309899.1:n.521-7T=
NM_001322971.1:c.200-7T=
NP_001309900.1:n.200-7T=
NM_001322974.1:c.-80-7T=
NP_001309903.1:n.-80-7T=
XM_017016279.1:c.-87T=
XP_016871768.1:n.-87T=
NM_000274.4:c.521-7T=
MANE Select
NP_000265.1:n.521-7T=
NM_001322965.2:c.521-7T=
NP_001309894.1:n.521-7T=
NM_001322966.2:c.521-7T=
NP_001309895.1:n.521-7T=
NM_001322967.2:c.521-7T=
NP_001309896.1:n.521-7T=
NM_001322968.2:c.521-7T=
NP_001309897.1:n.521-7T=
NM_001322969.2:c.521-7T=
NP_001309898.1:n.521-7T=
NM_001322970.2:c.521-7T=
NP_001309899.1:n.521-7T=
NM_001322971.2:c.200-7T=
NP_001309900.1:n.200-7T=
NM_001322974.2:c.-80-7T=
NP_001309903.1:n.-80-7T=
NM_001171814.2:c.107-7T=
NP_001165285.1:n.107-7T=