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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.30986706T= , CM000678.2:g.30986706T=
GRCh38
NC_000016.9:g.30998027T= , CM000678.1:g.30998027T=
GRCh37
NC_000016.8:g.30905528T=
NCBI36
NG_012346.1:g.6509T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000297679.10:c.531+2T=
MANE Select
ENSP00000297679.5:n.531+2T=
ENST00000262520.10:c.531+2T=
ENSP00000262520.6:n.531+2T=
ENST00000297679.9:c.531+2T=
ENSP00000297679.5:n.531+2T=
ENST00000562932.5:c.656T=
ENSP00000459852.1:p.Val219=
NM_001142777.1:c.531+2T=
NP_001136249.1:n.531+2T=
NM_001142778.1:c.531+2T=
NP_001136250.1:n.531+2T=
NM_025193.3:c.531+2T=
NP_079469.2:n.531+2T=
XM_005255601.3:c.531+2T=
XP_005255658.2:n.531+2T=
XM_011545960.1:c.531+2T=
XP_011544262.1:n.531+2T=
XM_011545961.1:c.531+2T=
XP_011544263.1:n.531+2T=
XM_011545962.1:c.531+2T=
XP_011544264.1:n.531+2T=
XM_011545960.2:c.531+2T=
XP_011544262.1:n.531+2T=
XM_011545962.2:c.531+2T=
XP_011544264.1:n.531+2T=
XM_017023732.1:c.531+2T=
XP_016879221.1:n.531+2T=
NM_025193.4:c.531+2T=
MANE Select
NP_079469.2:n.531+2T=
NM_001142777.2:c.531+2T=
NP_001136249.1:n.531+2T=
NM_001142778.2:c.531+2T=
NP_001136250.1:n.531+2T=