×
INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500 We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.5711473C>G , CM000666.2:g.5711473C>G
GRCh38
NC_000004.11:g.5713200C>G , CM000666.1:g.5713200C>G
GRCh37
NC_000004.10:g.5764101C>G
NCBI36
NG_008843.1:g.5277C>G
NG_015821.1:g.3076G>C
Transcript Alleles
HGVS
Amino-acid Change
NM_153717.3:c.93C>G
MANE Select
NP_714928.1:p.Ala31=
ENST00000264956.11:c.93C>G
MANE Select
ENSP00000264956.6:p.Ala31=
NM_001306090.1:c.93C>G
NP_001293019.1:p.Ala31=
NM_001306090.2:c.93C>G
NP_001293019.1:p.Ala31=
NM_001306092.1:c.93C>G
NP_001293021.1:p.Ala31=
NM_001306092.2:c.93C>G
NP_001293021.1:p.Ala31=
NM_153717.2:c.93C>G
NP_714928.1:p.Ala31=
ENST00000264956.10:c.93C>G
ENSP00000264956.6:p.Ala31=
ENST00000509451.1:c.93C>G
ENSP00000426774.1:p.Ala31=
XM_006713865.2:c.93C>G
XP_006713928.1:p.Ala31=
XM_006713865.3:c.93C>G
XP_006713928.1:p.Ala31=
XM_006713866.2:c.93C>G
XP_006713929.1:p.Ala31=
XM_006713866.3:c.93C>G
XP_006713929.1:p.Ala31=
XM_011513419.1:c.93C>G
XP_011511721.1:p.Ala31=
XM_011513419.2:c.93C>G
XP_011511721.1:p.Ala31=
XM_017007883.2:c.93C>G
XP_016863372.1:p.Ala31=
XR_001741164.1:n.273C>G
XR_001741165.1:n.273C>G
XR_001741166.1:n.273C>G
XR_001741167.1:n.273C>G
XR_001741168.1:n.273C>G
XR_001741169.2:n.275C>G
XR_001741170.1:n.275C>G
XR_427473.2:n.283C>G
XR_427473.3:n.273C>G
XR_427475.2:n.283C>G
XR_427475.3:n.273C>G
XR_427476.2:n.283C>G
XR_427476.3:n.273C>G
XR_924920.1:n.283C>G
XR_924920.2:n.273C>G
XR_924921.1:n.283C>G
XR_924921.2:n.273C>G
XR_924922.1:n.283C>G
XR_924922.2:n.273C>G
XR_924923.1:n.283C>G
XR_924924.1:n.283C>G
XR_924924.2:n.273C>G
XR_924925.1:n.283C>G
XR_924925.2:n.273C>G
XR_924926.1:n.283C>G
XR_924926.2:n.273C>G
XR_924927.1:n.283C>G
XR_924928.1:n.285C>G