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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.173903937C>G , CM000663.2:g.173903937C>G
GRCh38
NC_000001.10:g.173873075C>G , CM000663.1:g.173873075C>G
GRCh37
NC_000001.9:g.172139698C>G
NCBI36
NG_012462.1:g.18442G>C , LRG_577:g.18442G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1347G>C
MANE Select
ENSP00000356671.3:p.Leu449=
ENST00000367698.3:c.1347G>C
ENSP00000356671.3:p.Leu449=
ENST00000617423.4:c.732G>C
ENSP00000478688.1:p.Leu244=
NM_000488.3:c.1347G>C , LRG_577t1:c.1347G>C
NP_000479.1:p.Leu449=
XM_005245198.2:c.1203G>C
XP_005245255.1:p.Leu401=
NM_001365052.1:c.1203G>C
NP_001351981.1:p.Leu401=
NM_000488.4:c.1347G>C
MANE Select
NP_000479.1:p.Leu449=
NM_001365052.2:c.1203G>C
NP_001351981.1:p.Leu401=
NM_001386302.1:c.1470G>C
NP_001373231.1:p.Leu490=
NM_001386303.1:c.1428G>C
NP_001373232.1:p.Leu476=
NM_001386304.1:c.1326G>C
NP_001373233.1:p.Leu442=
NM_001386305.1:c.1290G>C
NP_001373234.1:p.Leu430=
NM_001386306.1:c.1131G>C
NP_001373235.1:p.Leu377=