×
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_000002.12:g.43846274G>C , CM000664.2:g.43846274G>C
GRCh38
NC_000002.11:g.44073413G>C , CM000664.1:g.44073413G>C
GRCh37
NC_000002.10:g.43926917G>C
NCBI36
NG_008884.1:g.12311G>C
NG_008884.2:g.19333G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000272286.4:c.285G>C
MANE Select
ENSP00000272286.2:p.Val95=
ENST00000643284.1:n.742G>C
ENST00000644611.1:c.297G>C
ENSP00000495423.1:p.Val99=
ENST00000272286.2:c.285G>C
ENSP00000272286.2:p.Val95=
NM_022437.2:c.285G>C
NP_071882.1:p.Val95=
XM_005264483.2:c.285G>C
XP_005264540.1:p.Val95=
XM_011533029.1:c.297G>C
XP_011531331.1:p.Val99=
XM_011533030.1:c.297G>C
XP_011531332.1:p.Val99=
XM_011533031.1:c.69G>C
XP_011531333.1:p.Val23=
XR_939707.1:n.787G>C
NM_001357321.1:c.285G>C
NP_001344250.1:p.Val95=
XM_011533029.2:c.297G>C
XP_011531331.1:p.Val99=
XM_011533030.2:c.297G>C
XP_011531332.1:p.Val99=
XR_001738891.1:n.801G>C
XR_939707.2:n.801G>C
NM_022437.3:c.285G>C
MANE Select
NP_071882.1:p.Val95=
NM_001357321.2:c.285G>C
NP_001344250.1:p.Val95=