×
SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725288G>C , CM000682.2:g.46725288G>C
GRCh38
NC_000020.10:g.45353927G>C , CM000682.1:g.45353927G>C
GRCh37
NC_000020.9:g.44787334G>C
NCBI36
NG_016284.1:g.20649G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.252G>C
MANE Select
ENSP00000352216.2:p.Val84=
ENST00000359271.3:c.252G>C
ENSP00000352216.2:p.Val84=
ENST00000611837.1:n.404G>C
NM_030777.3:c.252G>C
NP_110404.1:p.Val84=
XM_011529060.1:c.315G>C
XP_011527362.1:p.Val105=
XM_011529061.1:c.261G>C
XP_011527363.1:p.Val87=
XM_011529062.1:c.315G>C
XP_011527364.1:p.Val105=
XM_011529063.1:c.315G>C
XP_011527365.1:p.Val105=
XM_011529064.1:c.315G>C
XP_011527366.1:p.Val105=
XM_011529065.1:c.315G>C
XP_011527367.1:p.Val105=
XR_936641.1:n.451G>C
XM_011529060.2:c.315G>C
XP_011527362.1:p.Val105=
XM_011529061.2:c.261G>C
XP_011527363.1:p.Val87=
XM_011529062.2:c.315G>C
XP_011527364.1:p.Val105=
XM_011529063.2:c.315G>C
XP_011527365.1:p.Val105=
XM_011529064.2:c.315G>C
XP_011527366.1:p.Val105=
XM_011529065.2:c.315G>C
XP_011527367.1:p.Val105=
XM_017028087.2:c.252G>C
XP_016883576.1:p.Val84=
XR_936641.2:n.438G>C
NM_030777.4:c.252G>C
MANE Select
NP_110404.1:p.Val84=