×
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_000008.11:g.11548075T>C , CM000670.2:g.11548075T>C
GRCh38
NC_000008.10:g.11405584T>C , CM000670.1:g.11405584T>C
GRCh37
NC_000008.9:g.11442993T>C
NCBI36
NG_023543.1:g.59064T>C
NG_023543.2:g.59064T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000696154.2:n.370T>C
ENST00000696154.1:c.6T>C
ENSP00000512445.1:p.Asn2=
ENST00000259089.9:c.219T>C
MANE Select
ENSP00000259089.4:p.Asn73=
ENST00000645242.1:c.6T>C
ENSP00000494690.1:p.Asn2=
ENST00000259089.8:c.219T>C
ENSP00000259089.4:p.Asn73=
ENST00000529894.1:c.6T>C
ENSP00000433663.1:p.Asn2=
ENST00000533828.1:n.417T>C
NM_001715.2:c.219T>C
NP_001706.2:p.Asn73=
XM_011543824.1:c.219T>C
XP_011542126.1:p.Asn73=
XM_011543825.1:c.219T>C
XP_011542127.1:p.Asn73=
XM_011543826.1:c.219T>C
XP_011542128.1:p.Asn73=
XM_011543827.1:c.6T>C
XP_011542129.1:p.Asn2=
XM_011543828.1:c.219T>C
XP_011542130.1:p.Asn73=
XM_011543829.1:c.219T>C
XP_011542131.1:p.Asn73=
NM_001330465.1:c.6T>C
NP_001317394.1:p.Asn2=
XM_011543825.3:c.219T>C
XP_011542127.1:p.Asn73=
XM_011543828.3:c.219T>C
XP_011542130.1:p.Asn73=
XM_011543829.3:c.219T>C
XP_011542131.1:p.Asn73=
NM_001715.3:c.219T>C
MANE Select
NP_001706.2:p.Asn73=
NM_001330465.2:c.6T>C
NP_001317394.1:p.Asn2=