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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_000003.12:g.189995372A>G , CM000665.2:g.189995372A>G
GRCh38
NC_000003.11:g.189713161A>G , CM000665.1:g.189713161A>G
GRCh37
NC_000003.10:g.191195855A>G
NCBI36
NG_031929.1:g.132066T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000319332.10:c.551T>C
MANE Select
ENSP00000316881.5:p.Met184Thr
ENST00000319332.9:c.551T>C
ENSP00000316881.5:p.Met184Thr
ENST00000426003.1:c.8T>C
ENSP00000394326.1:p.Met3Thr
ENST00000427335.6:c.8T>C
ENSP00000408947.2:p.Met3Thr
ENST00000444866.5:c.8T>C
ENSP00000391374.1:p.Met3Thr
NM_001134418.1:c.8T>C
NP_001127890.1:p.Met3Thr
NM_018192.3:c.551T>C
NP_060662.2:p.Met184Thr
XM_011512955.1:c.8T>C
XP_011511257.1:p.Met3Thr
NM_018192.4:c.551T>C
MANE Select
NP_060662.2:p.Met184Thr
NM_001134418.2:c.8T>C
NP_001127890.1:p.Met3Thr