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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.7166170G>T , CM000681.2:g.7166170G>T
GRCh38
NC_000019.9:g.7166181G>T , CM000681.1:g.7166181G>T
GRCh37
NC_000019.8:g.7117181G>T
NCBI36
NG_008852.2:g.132831C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000302850.10:c.1845C>A
MANE Select
ENSP00000303830.4:p.Val615=
ENST00000302850.9:c.1845C>A
ENSP00000303830.4:p.Val615=
ENST00000341500.9:c.1845C>A
ENSP00000342838.4:p.Val615=
ENST00000598216.1:n.1820C>A
ENST00000600492.1:c.246C>A
ENSP00000473170.1:p.Val82=
NM_000208.2:c.1845C>A
NP_000199.2:p.Val615=
NM_000208.3:c.1845C>A
NP_000199.2:p.Val615=
NM_001079817.1:c.1845C>A
NP_001073285.1:p.Val615=
NM_001079817.2:c.1845C>A
NP_001073285.1:p.Val615=
XM_011527988.1:c.1923C>A
XP_011526290.1:p.Val641=
XM_011527989.1:c.1923C>A
XP_011526291.1:p.Val641=
XM_011527988.2:c.1845C>A
XP_011526290.2:p.Val615=
XM_011527989.3:c.1845C>A
XP_011526291.2:p.Val615=
NM_000208.4:c.1845C>A
MANE Select
NP_000199.2:p.Val615=
NM_001079817.3:c.1845C>A
NP_001073285.1:p.Val615=