HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186311170G>T , CM000663.2:g.186311170G>T | GRCh38 |
NC_000001.10:g.186280302G>T , CM000663.1:g.186280302G>T | GRCh37 |
NC_000001.9:g.184546925G>T | NCBI36 |
NG_008248.2:g.19885G>T | |
NG_023284.1:g.69156C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000445192.7:c.3636G>T MANE Select | ENSP00000399679.3:p.Lys1212Asn | |
ENST00000367483.8:c.3513G>T | ENSP00000356453.4:p.Lys1171Asn | |
ENST00000367485.4:c.3357G>T | ENSP00000356455.4:p.Lys1119Asn | |
ENST00000445192.6:c.3636G>T | ENSP00000399679.2:p.Lys1212Asn | |
ENST00000635041.1:c.3507G>T | ENSP00000489292.1:p.Lys1169Asn | |
NM_001127708.2:c.3513G>T | NP_001121180.2:p.Lys1171Asn | |
NM_001127709.2:c.3357G>T | NP_001121181.2:p.Lys1119Asn | |
NM_001127710.2:c.3234G>T | NP_001121182.2:p.Lys1078Asn | |
NM_001303232.1:c.3507G>T | NP_001290161.1:p.Lys1169Asn | |
NM_005807.4:c.3636G>T | NP_005798.3:p.Lys1212Asn | |
XM_024448707.1:c.3636G>T | XP_024304475.1:p.Lys1212Asn | |
XM_024448717.1:c.3513G>T | XP_024304485.1:p.Lys1171Asn | |
NM_001127708.3:c.3513G>T | NP_001121180.2:p.Lys1171Asn | |
NM_001127709.3:c.3357G>T | NP_001121181.2:p.Lys1119Asn | |
NM_001127710.3:c.3234G>T | NP_001121182.2:p.Lys1078Asn | |
NM_001303232.2:c.3507G>T | NP_001290161.1:p.Lys1169Asn | |
NM_005807.6:c.3636G>T MANE Select | NP_005798.3:p.Lys1212Asn |