×
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_000021.9:g.18281140A>G , CM000683.2:g.18281140A>G
GRCh38
NC_000021.8:g.19653457A>G , CM000683.1:g.19653457A>G
GRCh37
NC_000021.7:g.18575328A>G
NCBI36
NG_012207.1:g.127514T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000284885.8:c.2568T>C
MANE Select
ENSP00000284885.3:p.Pro856=
ENST00000284885.7:c.2568T>C
ENSP00000284885.3:p.Pro856=
NM_002772.2:c.2568T>C
NP_002763.2:p.Pro856=
XM_011529654.1:c.2703T>C
XP_011527956.1:p.Pro901=
XM_011529655.1:c.2703T>C
XP_011527957.1:p.Pro901=
XM_011529656.1:c.2703T>C
XP_011527958.1:p.Pro901=
XM_011529657.1:c.2658T>C
XP_011527959.1:p.Pro886=
XM_011529658.1:c.2622T>C
XP_011527960.1:p.Pro874=
XM_011529659.1:c.2613T>C
XP_011527961.1:p.Pro871=
XM_011529654.2:c.2703T>C
XP_011527956.1:p.Pro901=
XM_011529656.2:c.2703T>C
XP_011527958.1:p.Pro901=
XM_011529657.2:c.2658T>C
XP_011527959.1:p.Pro886=
XM_011529658.2:c.2622T>C
XP_011527960.1:p.Pro874=
NM_002772.3:c.2568T>C
MANE Select
NP_002763.3:p.Pro856=