×
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_000010.11:g.124398095A>G , CM000672.2:g.124398095A>G
GRCh38
NC_000010.10:g.126086664A>G , CM000672.1:g.126086664A>G
GRCh37
NC_000010.9:g.126076654A>G
NCBI36
NG_008861.1:g.25856T>C , LRG_685:g.25856T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368845.6:c.1167T>C
MANE Select
ENSP00000357838.5:p.Asp389=
ENST00000368845.5:c.1167T>C
ENSP00000357838.5:p.Asp389=
ENST00000471127.1:n.677T>C
ENST00000539214.5:c.753T>C
ENSP00000439042.1:p.Asp251=
NM_000274.3:c.1167T>C , LRG_685t1:c.1167T>C
NP_000265.1:p.Asp389=
NM_001171814.1:c.753T>C
NP_001165285.1:p.Asp251=
XM_006717871.2:c.1167T>C
XP_006717934.1:p.Asp389=
XM_011539833.1:c.1167T>C
XP_011538135.1:p.Asp389=
XM_011539834.1:c.1167T>C
XP_011538136.1:p.Asp389=
NM_001322965.1:c.1167T>C
NP_001309894.1:p.Asp389=
NM_001322966.1:c.1167T>C
NP_001309895.1:p.Asp389=
NM_001322967.1:c.1167T>C
NP_001309896.1:p.Asp389=
NM_001322968.1:c.1167T>C
NP_001309897.1:p.Asp389=
NM_001322969.1:c.1167T>C
NP_001309898.1:p.Asp389=
NM_001322970.1:c.1167T>C
NP_001309899.1:p.Asp389=
NM_001322971.1:c.846T>C
NP_001309900.1:p.Asp282=
NM_001322974.1:c.567T>C
NP_001309903.1:p.Asp189=
XM_017016279.1:c.567T>C
XP_016871768.1:p.Asp189=
NM_000274.4:c.1167T>C
MANE Select
NP_000265.1:p.Asp389=
NM_001322965.2:c.1167T>C
NP_001309894.1:p.Asp389=
NM_001322966.2:c.1167T>C
NP_001309895.1:p.Asp389=
NM_001322967.2:c.1167T>C
NP_001309896.1:p.Asp389=
NM_001322968.2:c.1167T>C
NP_001309897.1:p.Asp389=
NM_001322969.2:c.1167T>C
NP_001309898.1:p.Asp389=
NM_001322970.2:c.1167T>C
NP_001309899.1:p.Asp389=
NM_001322971.2:c.846T>C
NP_001309900.1:p.Asp282=
NM_001322974.2:c.567T>C
NP_001309903.1:p.Asp189=
NM_001171814.2:c.753T>C
NP_001165285.1:p.Asp251=