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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_000015.10:g.27851422C>G , CM000677.2:g.27851422C>G
GRCh38
NC_000015.9:g.28096568C>G , CM000677.1:g.28096568C>G
GRCh37
NC_000015.8:g.25770163C>G
NCBI36
NG_009846.1:g.252891G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000354638.8:c.2298G>C
MANE Select
ENSP00000346659.3:p.Pro766=
ENST00000353809.9:c.2226G>C
ENSP00000261276.8:p.Pro742=
ENST00000354638.7:c.2298G>C
ENSP00000346659.3:p.Pro766=
NM_000275.2:c.2298G>C
NP_000266.2:p.Pro766=
NM_001300984.1:c.2226G>C
NP_001287913.1:p.Pro742=
XM_011521639.1:c.2364G>C
XP_011519941.1:p.Pro788=
XM_011521640.1:c.2340G>C
XP_011519942.1:p.Pro780=
XM_011521641.1:c.2322G>C
XP_011519943.1:p.Pro774=
XM_011521642.1:c.2292G>C
XP_011519944.1:p.Pro764=
XM_011521643.1:c.2250G>C
XP_011519945.1:p.Pro750=
XM_011521644.1:c.2226G>C
XP_011519946.1:p.Pro742=
XM_011521645.1:c.2157G>C
XP_011519947.1:p.Pro719=
XM_011521640.2:c.2340G>C
XP_011519942.1:p.Pro780=
XM_017022255.1:c.2364G>C
XP_016877744.1:p.Pro788=
XM_017022256.1:c.2322G>C
XP_016877745.1:p.Pro774=
XM_017022257.1:c.2292G>C
XP_016877746.1:p.Pro764=
XM_017022258.1:c.2322G>C
XP_016877747.1:p.Pro774=
XM_017022259.1:c.2250G>C
XP_016877748.1:p.Pro750=
XM_017022260.1:c.2226G>C
XP_016877749.1:p.Pro742=
XM_017022261.1:c.2169G>C
XP_016877750.1:p.Pro723=
XM_017022262.1:c.2268+19732G>C
XP_016877751.1:n.2268+19732G>C
XM_017022263.1:c.2157G>C
XP_016877752.1:p.Pro719=
XM_017022264.1:c.2157G>C
XP_016877753.1:p.Pro719=
NM_000275.3:c.2298G>C
MANE Select
NP_000266.2:p.Pro766=
NM_001300984.2:c.2226G>C
NP_001287913.1:p.Pro742=