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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.124398071A>T , CM000672.2:g.124398071A>T
GRCh38
NC_000010.10:g.126086640A>T , CM000672.1:g.126086640A>T
GRCh37
NC_000010.9:g.126076630A>T
NCBI36
NG_008861.1:g.25880T>A , LRG_685:g.25880T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368845.6:c.1191T>A
MANE Select
ENSP00000357838.5:p.Leu397=
ENST00000368845.5:c.1191T>A
ENSP00000357838.5:p.Leu397=
ENST00000471127.1:n.701T>A
ENST00000539214.5:c.777T>A
ENSP00000439042.1:p.Leu259=
NM_000274.3:c.1191T>A , LRG_685t1:c.1191T>A
NP_000265.1:p.Leu397=
NM_001171814.1:c.777T>A
NP_001165285.1:p.Leu259=
XM_006717871.2:c.1191T>A
XP_006717934.1:p.Leu397=
XM_011539833.1:c.1191T>A
XP_011538135.1:p.Leu397=
XM_011539834.1:c.1191T>A
XP_011538136.1:p.Leu397=
NM_001322965.1:c.1191T>A
NP_001309894.1:p.Leu397=
NM_001322966.1:c.1191T>A
NP_001309895.1:p.Leu397=
NM_001322967.1:c.1191T>A
NP_001309896.1:p.Leu397=
NM_001322968.1:c.1191T>A
NP_001309897.1:p.Leu397=
NM_001322969.1:c.1191T>A
NP_001309898.1:p.Leu397=
NM_001322970.1:c.1191T>A
NP_001309899.1:p.Leu397=
NM_001322971.1:c.870T>A
NP_001309900.1:p.Leu290=
NM_001322974.1:c.591T>A
NP_001309903.1:p.Leu197=
XM_017016279.1:c.591T>A
XP_016871768.1:p.Leu197=
NM_000274.4:c.1191T>A
MANE Select
NP_000265.1:p.Leu397=
NM_001322965.2:c.1191T>A
NP_001309894.1:p.Leu397=
NM_001322966.2:c.1191T>A
NP_001309895.1:p.Leu397=
NM_001322967.2:c.1191T>A
NP_001309896.1:p.Leu397=
NM_001322968.2:c.1191T>A
NP_001309897.1:p.Leu397=
NM_001322969.2:c.1191T>A
NP_001309898.1:p.Leu397=
NM_001322970.2:c.1191T>A
NP_001309899.1:p.Leu397=
NM_001322971.2:c.870T>A
NP_001309900.1:p.Leu290=
NM_001322974.2:c.591T>A
NP_001309903.1:p.Leu197=
NM_001171814.2:c.777T>A
NP_001165285.1:p.Leu259=