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Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.53952147A= , CM000676.2:g.53952147A=
GRCh38
NC_000014.8:g.54418865A= , CM000676.1:g.54418865A=
GRCh37
NC_000014.7:g.53488615A=
NCBI36
NG_009215.1:g.9690T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000245451.9:c.76T=
MANE Select
ENSP00000245451.4:p.Leu26=
ENST00000245451.8:c.76T=
ENSP00000245451.4:p.Leu26=
ENST00000417573.5:c.76T=
ENSP00000394165.1:p.Leu26=
ENST00000558961.1:c.1T=
ENSP00000453691.1:p.Leu1=
ENST00000558984.1:c.76T=
ENSP00000454134.1:p.Leu26=
ENST00000559087.5:c.76T=
ENSP00000453485.1:p.Leu26=
ENST00000559501.1:c.-114T=
ENSP00000453365.1:n.-114T=
ENST00000559642.1:c.76T=
ENSP00000453467.1:p.Leu26=
NM_001202.3:c.76T=
NP_001193.2:p.Leu26=
NM_130850.2:c.76T=
NP_570911.2:p.Leu26=
NM_130851.2:c.76T=
NP_570912.2:p.Leu26=
XM_005268015.3:c.76T=
XP_005268072.1:p.Leu26=
NM_001202.5:c.76T=
NP_001193.2:p.Leu26=
NM_001347912.1:c.217T=
NP_001334841.1:p.Leu73=
NM_001347913.1:c.-114T=
NP_001334842.1:n.-114T=
NM_001347914.1:c.76T=
NP_001334843.1:p.Leu26=
NM_001347915.1:c.-114T=
NP_001334844.1:n.-114T=
NM_001347916.1:c.76T=
NP_001334845.1:p.Leu26=
NM_001347917.1:c.-114T=
NP_001334846.1:n.-114T=
NM_130850.4:c.76T=
NP_570911.2:p.Leu26=
NM_130851.3:c.76T=
NP_570912.2:p.Leu26=
NM_001202.6:c.76T=
MANE Select
NP_001193.2:p.Leu26=
NM_130850.5:c.76T=
NP_570911.2:p.Leu26=
NM_001347913.2:c.-114T=
NP_001334842.1:n.-114T=
NM_001347914.2:c.76T=
NP_001334843.1:p.Leu26=
NM_001347915.2:c.-114T=
NP_001334844.1:n.-114T=
NM_130851.4:c.76T=
NP_570912.2:p.Leu26=