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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_000012.12:g.13866207A>T , CM000674.2:g.13866207A>T
GRCh38
NC_000012.11:g.14019141A>T , CM000674.1:g.14019141A>T
GRCh37
NC_000012.10:g.13910408A>T
NCBI36
NG_031854.1:g.118882T>A
NG_031854.2:g.120806T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609686.4:c.2T>A
MANE Select
ENSP00000477455.1:p.Met1Lys
ENST00000630791.2:c.2T>A
ENSP00000486677.2:p.Met1Lys
ENST00000609686.3:c.2T>A
ENSP00000477455.1:p.Met1Lys
ENST00000627535.2:c.2T>A
ENSP00000486411.1:p.Met1Lys
ENST00000630791.1:c.2T>A
ENSP00000486677.1:p.Met1Lys
NM_000834.3:c.2T>A
NP_000825.2:p.Met1Lys
XM_011520628.1:c.2T>A
XP_011518930.1:p.Met1Lys
XM_011520629.1:c.2T>A
XP_011518931.1:p.Met1Lys
XM_011520630.1:c.2T>A
XP_011518932.1:p.Met1Lys
NM_000834.4:c.2T>A
NP_000825.2:p.Met1Lys
XM_011520628.2:c.2T>A
XP_011518930.1:p.Met1Lys
XM_011520629.2:c.2T>A
XP_011518931.1:p.Met1Lys
XM_017019219.2:c.2T>A
XP_016874708.1:p.Met1Lys
NM_000834.5:c.2T>A
MANE Select
NP_000825.2:p.Met1Lys