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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.43877655C>G , CM000664.2:g.43877655C>G
GRCh38
NC_000002.11:g.44104794C>G , CM000664.1:g.44104794C>G
GRCh37
NC_000002.10:g.43958298C>G
NCBI36
NG_008884.1:g.43692C>G
NG_008884.2:g.50714C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000272286.4:c.1851C>G
MANE Select
ENSP00000272286.2:p.Leu617=
ENST00000272286.2:c.1851C>G
ENSP00000272286.2:p.Leu617=
NM_022437.2:c.1851C>G
NP_071882.1:p.Leu617=
XM_005264483.2:c.1848C>G
XP_005264540.1:p.Leu616=
XM_011533029.1:c.1863C>G
XP_011531331.1:p.Leu621=
XM_011533030.1:c.1860C>G
XP_011531332.1:p.Leu620=
XM_011533031.1:c.1635C>G
XP_011531333.1:p.Leu545=
XR_939707.1:n.2353C>G
NM_001357321.1:c.1848C>G
NP_001344250.1:p.Leu616=
XM_011533029.2:c.1863C>G
XP_011531331.1:p.Leu621=
XM_011533030.2:c.1860C>G
XP_011531332.1:p.Leu620=
XR_001738891.1:n.2367C>G
XR_939707.2:n.2367C>G
NM_022437.3:c.1851C>G
MANE Select
NP_071882.1:p.Leu617=
NM_001357321.2:c.1848C>G
NP_001344250.1:p.Leu616=