×
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_000017.11:g.18120114A>C , CM000679.2:g.18120114A>C
GRCh38
NC_000017.10:g.18023428A>C , CM000679.1:g.18023428A>C
GRCh37
NC_000017.9:g.17964153A>C
NCBI36
NG_011634.1:g.16409A>C
NG_011634.2:g.16409A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000647165.2:c.1314A>C
MANE Select
ENSP00000495481.1:p.Pro438=
ENST00000205890.9:c.1314A>C
ENSP00000205890.5:p.Pro438=
ENST00000583079.1:n.947A>C
ENST00000615845.4:c.1314A>C
ENSP00000481642.1:p.Pro438=
NM_016239.3:c.1314A>C
NP_057323.3:p.Pro438=
XM_011523917.1:c.1314A>C
XP_011522219.1:p.Pro438=
XM_011523918.1:c.1314A>C
XP_011522220.1:p.Pro438=
XM_011523919.1:c.1314A>C
XP_011522221.1:p.Pro438=
XM_011523920.1:c.1314A>C
XP_011522222.1:p.Pro438=
XM_011523921.1:c.1314A>C
XP_011522223.1:p.Pro438=
XR_934037.1:n.1973A>C
XR_934038.1:n.1973A>C
XR_934039.1:n.1973A>C
XM_011523918.2:c.1314A>C
XP_011522220.1:p.Pro438=
XM_017024714.2:c.1314A>C
XP_016880203.1:p.Pro438=
XM_017024715.2:c.1314A>C
XP_016880204.1:p.Pro438=
XM_024450780.1:c.1314A>C
XP_024306548.1:p.Pro438=
XM_024450781.1:c.1314A>C
XP_024306549.1:p.Pro438=
XM_024450782.1:c.1314A>C
XP_024306550.1:p.Pro438=
XR_934039.2:n.2012A>C
NM_016239.4:c.1314A>C
MANE Select
NP_057323.3:p.Pro438=