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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.43875160T>A , CM000664.2:g.43875160T>A
GRCh38
NC_000002.11:g.44102299T>A , CM000664.1:g.44102299T>A
GRCh37
NC_000002.10:g.43955803T>A
NCBI36
NG_008884.1:g.41197T>A
NG_008884.2:g.48219T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000272286.4:c.1503T>A
MANE Select
ENSP00000272286.2:p.Leu501=
ENST00000272286.2:c.1503T>A
ENSP00000272286.2:p.Leu501=
NM_022437.2:c.1503T>A
NP_071882.1:p.Leu501=
XM_005264483.2:c.1500T>A
XP_005264540.1:p.Leu500=
XM_011533029.1:c.1515T>A
XP_011531331.1:p.Leu505=
XM_011533030.1:c.1512T>A
XP_011531332.1:p.Leu504=
XM_011533031.1:c.1287T>A
XP_011531333.1:p.Leu429=
XR_939707.1:n.2005T>A
NM_001357321.1:c.1500T>A
NP_001344250.1:p.Leu500=
XM_011533029.2:c.1515T>A
XP_011531331.1:p.Leu505=
XM_011533030.2:c.1512T>A
XP_011531332.1:p.Leu504=
XR_001738891.1:n.2019T>A
XR_939707.2:n.2019T>A
NM_022437.3:c.1503T>A
MANE Select
NP_071882.1:p.Leu501=
NM_001357321.2:c.1500T>A
NP_001344250.1:p.Leu500=