×
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_000006.12:g.24777248T>C , CM000668.2:g.24777248T>C
GRCh38
NC_000006.11:g.24777476T>C , CM000668.1:g.24777476T>C
GRCh37
NC_000006.10:g.24885455T>C
NCBI36
NG_030440.1:g.7318T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000230056.8:c.2T>C
MANE Select
ENSP00000230056.3:p.Met1Thr
ENST00000230056.7:c.2T>C
ENSP00000230056.3:p.Met1Thr
ENST00000356509.7:c.2T>C
ENSP00000348902.3:p.Met1Thr
ENST00000378054.6:c.2T>C
ENSP00000367293.2:p.Met1Thr
ENST00000378059.3:c.2T>C
ENSP00000367298.3:p.Met1Thr
ENST00000468943.1:n.191T>C
ENST00000476555.5:c.2T>C
ENSP00000419584.1:p.Met1Thr
ENST00000620958.4:c.2T>C
ENSP00000477506.1:p.Met1Thr
NM_001251989.1:c.2T>C
NP_001238918.1:p.Met1Thr
NM_001251990.1:c.2T>C
NP_001238919.1:p.Met1Thr
NM_001251991.1:c.2T>C
NP_001238920.1:p.Met1Thr
NM_015895.4:c.2T>C
NP_056979.1:p.Met1Thr
XM_005249159.1:c.2T>C
XP_005249216.1:p.Met1Thr
XM_005249159.2:c.2T>C
XP_005249216.1:p.Met1Thr
NM_015895.5:c.2T>C
MANE Select
NP_056979.1:p.Met1Thr
NM_001251989.2:c.2T>C
NP_001238918.1:p.Met1Thr
NM_001251990.2:c.2T>C
NP_001238919.1:p.Met1Thr