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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.18069641A= , CM000681.2:g.18069641A=
GRCh38
NC_000019.9:g.18180451A= , CM000681.1:g.18180451A=
GRCh37
NC_000019.8:g.18041451A=
NCBI36
NG_007366.2:g.34309T= , LRG_72:g.34309T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000593993.7:c.1094T=
MANE Select
ENSP00000472165.2:p.Met365=
ENST00000593993.6:c.1094T=
ENSP00000472165.2:p.Met365=
ENST00000600835.6:c.1094T=
ENSP00000470788.1:p.Met365=
NM_001290023.1:c.1094T=
NP_001276952.1:p.Met365=
NM_001290024.1:c.1214T=
NP_001276953.1:p.Met405=
NM_005535.2:c.1094T=
NP_005526.1:p.Met365=
XM_006722741.2:c.1214T=
XP_006722804.2:p.Met405=
XM_011527966.1:c.1247T=
XP_011526268.1:p.Met416=
XM_011527967.1:c.1235T=
XP_011526269.1:p.Met412=
XM_011527968.1:c.1226T=
XP_011526270.1:p.Met409=
XM_011527969.1:c.1214T=
XP_011526271.1:p.Met405=
XM_011527970.1:c.1247T=
XP_011526272.1:p.Met416=
XM_011527971.1:c.1247T=
XP_011526273.1:p.Met416=
XM_011527972.1:c.1247T=
XP_011526274.1:p.Met416=
XM_011527973.1:c.1127T=
XP_011526275.1:p.Met376=
XM_011527974.1:c.1115T=
XP_011526276.1:p.Met372=
XM_011527975.1:c.1214T=
XP_011526277.1:p.Met405=
XM_011527976.1:c.1247T=
XP_011526278.1:p.Met416=
XM_006722741.3:c.1214T=
XP_006722804.2:p.Met405=
XM_011527966.2:c.1247T=
XP_011526268.1:p.Met416=
XM_011527967.2:c.1235T=
XP_011526269.1:p.Met412=
XM_011527968.3:c.1226T=
XP_011526270.1:p.Met409=
XM_011527969.2:c.1214T=
XP_011526271.1:p.Met405=
XM_011527970.2:c.1247T=
XP_011526272.1:p.Met416=
XM_011527971.3:c.1247T=
XP_011526273.1:p.Met416=
XM_011527972.3:c.1247T=
XP_011526274.1:p.Met416=
XM_011527973.2:c.1127T=
XP_011526275.1:p.Met376=
XM_011527974.2:c.1115T=
XP_011526276.1:p.Met372=
XM_011527975.2:c.1214T=
XP_011526277.1:p.Met405=
XM_011527976.2:c.1247T=
XP_011526278.1:p.Met416=
XM_017026762.1:c.512T=
XP_016882251.1:p.Met171=
NM_001290023.2:c.1094T=
NP_001276952.1:p.Met365=
NM_005535.3:c.1094T=
MANE Select
NP_005526.1:p.Met365=