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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.37227339C>G , CM000667.2:g.37227339C>G
GRCh38
NC_000005.9:g.37227441C>G , CM000667.1:g.37227441C>G
GRCh37
NC_000005.8:g.37263198C>G
NCBI36
NG_032772.1:g.27090G>C
NG_032772.2:g.27090G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000425232.7:c.1158G>C
ENST00000651892.2:c.1425G>C
MANE Select
ENSP00000498265.2:p.Leu475=
ENST00000675547.1:n.1495G>C
ENST00000676290.1:n.1500G>C
ENST00000425232.6:c.1425G>C
ENSP00000389014.2:p.Leu475=
ENST00000508244.5:c.1425G>C
ENSP00000421690.1:p.Leu475=
NM_023073.3:c.1425G>C
NP_075561.3:p.Leu475=
XM_005248345.2:c.1425G>C
XP_005248402.1:p.Leu475=
XM_005248346.2:c.1425G>C
XP_005248403.1:p.Leu475=
XM_005248347.2:c.1425G>C
XP_005248404.1:p.Leu475=
XM_005248349.2:c.1425G>C
XP_005248406.1:p.Leu475=
XM_005248350.2:c.1425G>C
XP_005248407.1:p.Leu475=
XM_006714489.2:c.1425G>C
XP_006714552.1:p.Leu475=
XM_011514085.1:c.1425G>C
XP_011512387.1:p.Leu475=
XM_011514086.1:c.1425G>C
XP_011512388.1:p.Leu475=
XM_011514087.1:c.1425G>C
XP_011512389.1:p.Leu475=
XM_011514088.1:c.1425G>C
XP_011512390.1:p.Leu475=
XM_011514089.1:c.1425G>C
XP_011512391.1:p.Leu475=
XM_011514090.1:c.1107G>C
XP_011512392.1:p.Leu369=
XM_011514091.1:c.753G>C
XP_011512393.1:p.Leu251=
XM_011514092.1:c.1425G>C
XP_011512394.1:p.Leu475=
XM_011514093.1:c.1425G>C
XP_011512395.1:p.Leu475=
XR_427661.2:n.1600G>C
XR_925644.1:n.1600G>C
XM_005248345.4:c.1425G>C
XP_005248402.1:p.Leu475=
XM_005248346.4:c.1425G>C
XP_005248403.1:p.Leu475=
XM_005248347.4:c.1425G>C
XP_005248404.1:p.Leu475=
XM_005248349.4:c.1425G>C
XP_005248406.1:p.Leu475=
XM_005248350.4:c.1425G>C
XP_005248407.1:p.Leu475=
XM_011514085.3:c.1425G>C
XP_011512387.1:p.Leu475=
XM_011514086.3:c.1425G>C
XP_011512388.1:p.Leu475=
XM_011514087.2:c.1425G>C
XP_011512389.1:p.Leu475=
XM_011514088.2:c.1425G>C
XP_011512390.1:p.Leu475=
XM_011514089.2:c.1425G>C
XP_011512391.1:p.Leu475=
XM_011514090.3:c.1107G>C
XP_011512392.1:p.Leu369=
XM_011514092.2:c.1425G>C
XP_011512394.1:p.Leu475=
XM_017009760.1:c.1236G>C
XP_016865249.1:p.Leu412=
XM_017009761.2:c.1236G>C
XP_016865250.1:p.Leu412=
XM_017009763.1:c.432G>C
XP_016865252.1:p.Leu144=
XM_017009765.1:c.237G>C
XP_016865254.1:p.Leu79=
XM_024446183.1:c.1236G>C
XP_024301951.1:p.Leu412=
XM_024446184.1:c.1107G>C
XP_024301952.1:p.Leu369=
XM_024446185.1:c.753G>C
XP_024301953.1:p.Leu251=
XM_024446186.1:c.432G>C
XP_024301954.1:p.Leu144=
XR_001742208.1:n.1649G>C
XR_002956171.1:n.1649G>C
XR_925644.2:n.1649G>C
NM_001384732.1:c.1425G>C
MANE Select
NP_001371661.1:p.Leu475=
NM_023073.4:c.1425G>C
NP_075561.3:p.Leu475=