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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.2171782G>A , CM000673.2:g.2171782G>A
GRCh38
NC_000011.9:g.2193012G>A , CM000673.1:g.2193012G>A
GRCh37
NC_000011.8:g.2149588G>A
NCBI36
NG_008128.1:g.5024C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000352909.8:c.5C>T
MANE Select
ENSP00000325951.4:p.Pro2Leu
ENST00000324155.8:c.5C>T
ENSP00000325831.3:p.Pro2Leu
ENST00000333684.9:c.5C>T
ENSP00000328814.6:p.Pro2Leu
ENST00000352909.7:c.5C>T
ENSP00000325951.3:p.Pro2Leu
ENST00000381168.7:c.5C>T
ENSP00000370560.3:p.Pro2Leu
ENST00000381175.5:c.5C>T
ENSP00000370567.1:p.Pro2Leu
ENST00000381178.5:c.5C>T
ENSP00000370571.1:p.Pro2Leu
NM_000360.3:c.5C>T
NP_000351.2:p.Pro2Leu
NM_199292.2:c.5C>T
NP_954986.2:p.Pro2Leu
NM_199293.2:c.5C>T
NP_954987.2:p.Pro2Leu
XM_011520335.1:c.5C>T
XP_011518637.1:p.Pro2Leu
XM_011520335.2:c.5C>T
XP_011518637.1:p.Pro2Leu
NM_000360.4:c.5C>T
MANE Select
NP_000351.2:p.Pro2Leu
NM_199292.3:c.5C>T
NP_954986.2:p.Pro2Leu
NM_199293.3:c.5C>T
NP_954987.2:p.Pro2Leu