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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.48702960C>G , CM000681.2:g.48702960C>G
GRCh38
NC_000019.9:g.49206217C>G , CM000681.1:g.49206217C>G
GRCh37
NC_000019.8:g.53898029C>G
NCBI36
NG_007511.1:g.11990C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000425340.3:c.4C>G
MANE Select
ENSP00000387498.2:p.Leu2Val
ENST00000522966.2:c.4C>G
ENSP00000430227.2:p.Leu2Val
ENST00000391876.5:c.4C>G
ENSP00000375748.4:p.Leu2Val
ENST00000425340.2:c.4C>G
ENSP00000387498.2:p.Leu2Val
ENST00000522966.1:c.4C>G
ENSP00000430227.1:p.Leu2Val
NM_000511.5:c.4C>G
NP_000502.4:p.Leu2Val
NM_001097638.2:c.4C>G
NP_001091107.1:p.Leu2Val
NR_131188.1:n.889G>C
NM_000511.6:c.4C>G
MANE Select
NP_000502.4:p.Leu2Val
NM_001097638.3:c.4C>G
NP_001091107.1:p.Leu2Val