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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_000006.12:g.35805674G>C , CM000668.2:g.35805674G>C
GRCh38
NC_000006.11:g.35773451G>C , CM000668.1:g.35773451G>C
GRCh37
NC_000006.10:g.35881429G>C
NCBI36
NG_012184.1:g.5381G>C
NG_012184.2:g.5381G>C
NG_012184.3:g.13469G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000360215.3:c.4G>C
MANE Select
ENSP00000353346.1:p.Val2Leu
ENST00000651132.1:c.4G>C
ENSP00000498322.1:p.Val2Leu
ENST00000651676.1:c.4G>C
ENSP00000498699.1:p.Val2Leu
ENST00000651994.1:c.4G>C
ENSP00000498310.1:p.Val2Leu
ENST00000360215.2:c.4G>C
ENSP00000353346.1:p.Val2Leu
NM_182548.3:c.4G>C
NP_872354.1:p.Val2Leu
XM_011514403.1:c.4G>C
XP_011512705.1:p.Val2Leu
NM_182548.4:c.4G>C
MANE Select
NP_872354.1:p.Val2Leu