×
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_000009.12:g.124503393C>A , CM000671.2:g.124503393C>A
GRCh38
NC_000009.11:g.127265672C>A , CM000671.1:g.127265672C>A
GRCh37
NC_000009.10:g.126305493C>A
NCBI36
NG_008176.1:g.9028G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000373588.9:c.3G>T
MANE Select
ENSP00000362690.4:p.Met1Ile
ENST00000373588.8:c.3G>T
ENSP00000362690.4:p.Met1Ile
ENST00000455734.1:c.3G>T
ENSP00000393245.1:p.Met1Ile
ENST00000620110.4:c.3G>T
ENSP00000483309.1:p.Met1Ile
NM_004959.4:c.3G>T
NP_004950.2:p.Met1Ile
XM_005251871.2:c.3G>T
XP_005251928.1:p.Met1Ile
XM_005251872.3:c.-117G>T
XP_005251929.1:n.-117G>T
XM_011518455.1:c.3G>T
XP_011516757.1:p.Met1Ile
XM_011518456.1:c.3G>T
XP_011516758.1:p.Met1Ile
NM_004959.5:c.3G>T
MANE Select
NP_004950.2:p.Met1Ile