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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.39244328C>T , CM000666.2:g.39244328C>T
GRCh38
NC_000004.11:g.39245948C>T , CM000666.1:g.39245948C>T
GRCh37
NC_000004.10:g.38922343C>T
NCBI36
NG_031813.1:g.66925C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399820.8:c.2502C>T
MANE Select
ENSP00000382717.3:p.Ala834=
ENST00000399820.7:c.2502C>T
ENSP00000382717.3:p.Ala834=
ENST00000506869.5:c.*2083C>T
ENSP00000424319.1:n.*2083C>T
ENST00000512095.5:n.1500C>T
NM_025132.3:c.2502C>T
NP_079408.3:p.Ala834=
XM_011513724.1:c.2514C>T
XP_011512026.1:p.Ala838=
XM_011513725.1:c.2448C>T
XP_011512027.1:p.Ala816=
XM_011513726.1:c.2034C>T
XP_011512028.1:p.Ala678=
XM_011513727.1:c.2034C>T
XP_011512029.1:p.Ala678=
XM_011513728.1:c.2022C>T
XP_011512030.1:p.Ala674=
XM_011513729.1:c.2514C>T
XP_011512031.1:p.Ala838=
XR_925155.1:n.2578C>T
NM_001317924.1:c.2022C>T
NP_001304853.1:p.Ala674=
XM_011513725.2:c.2448C>T
XP_011512027.1:p.Ala816=
XM_011513726.3:c.2034C>T
XP_011512028.1:p.Ala678=
XM_017008501.1:c.2022C>T
XP_016863990.1:p.Ala674=
XR_001741306.1:n.2578C>T
XR_001741307.1:n.2566C>T
XR_001741308.1:n.2578C>T
XR_001741309.1:n.2566C>T
XR_001741310.1:n.2566C>T
XR_001741311.2:n.2415C>T
NM_025132.4:c.2502C>T
MANE Select
NP_079408.3:p.Ala834=
NM_001317924.2:c.2022C>T
NP_001304853.1:p.Ala674=