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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.7293887G>C , CM000681.2:g.7293887G>C
GRCh38
NC_000019.9:g.7293898G>C , CM000681.1:g.7293898G>C
GRCh37
NC_000019.8:g.7244898G>C
NCBI36
NG_008852.2:g.5114C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000302850.10:c.5C>G
MANE Select
ENSP00000303830.4:p.Ala2Gly
ENST00000302850.9:c.5C>G
ENSP00000303830.4:p.Ala2Gly
ENST00000341500.9:c.5C>G
ENSP00000342838.4:p.Ala2Gly
NM_000208.2:c.5C>G
NP_000199.2:p.Ala2Gly
NM_000208.3:c.5C>G
NP_000199.2:p.Ala2Gly
NM_001079817.1:c.5C>G
NP_001073285.1:p.Ala2Gly
NM_001079817.2:c.5C>G
NP_001073285.1:p.Ala2Gly
XM_011527988.2:c.5C>G
XP_011526290.2:p.Ala2Gly
XM_011527989.3:c.5C>G
XP_011526291.2:p.Ala2Gly
NM_000208.4:c.5C>G
MANE Select
NP_000199.2:p.Ala2Gly
NM_001079817.3:c.5C>G
NP_001073285.1:p.Ala2Gly