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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.48702963G>T , CM000681.2:g.48702963G>T
GRCh38
NC_000019.9:g.49206220G>T , CM000681.1:g.49206220G>T
GRCh37
NC_000019.8:g.53898032G>T
NCBI36
NG_007511.1:g.11993G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000425340.3:c.7G>T
MANE Select
ENSP00000387498.2:p.Val3Phe
ENST00000522966.2:c.7G>T
ENSP00000430227.2:p.Val3Phe
ENST00000391876.5:c.7G>T
ENSP00000375748.4:p.Val3Phe
ENST00000425340.2:c.7G>T
ENSP00000387498.2:p.Val3Phe
ENST00000522966.1:c.7G>T
ENSP00000430227.1:p.Val3Phe
NM_000511.5:c.7G>T
NP_000502.4:p.Val3Phe
NM_001097638.2:c.7G>T
NP_001091107.1:p.Val3Phe
NR_131188.1:n.886C>A
NM_000511.6:c.7G>T
MANE Select
NP_000502.4:p.Val3Phe
NM_001097638.3:c.7G>T
NP_001091107.1:p.Val3Phe