HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154863169A>T , CM000685.2:g.154863169A>T | GRCh38 |
NC_000023.10:g.154091444A>T , CM000685.1:g.154091444A>T | GRCh37 |
NC_000023.9:g.153744638A>T | NCBI36 |
NG_011403.1:g.164555T>A | |
NG_011403.2:g.164555T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6488T>A MANE Select | ENSP00000353393.4:p.Ile2163Asn | |
ENST00000644698.1:c.221T>A | ENSP00000495706.1:p.Ile74Asn | |
ENST00000330287.10:c.83T>A | ENSP00000327895.6:p.Ile28Asn | |
ENST00000360256.8:c.6488T>A | ENSP00000353393.4:p.Ile2163Asn | |
NM_000132.3:c.6488T>A | NP_000123.1:p.Ile2163Asn | |
NM_019863.2:c.83T>A | NP_063916.1:p.Ile28Asn | |
XM_011531126.1:c.6383T>A | XP_011529428.1:p.Ile2128Asn | |
NM_000132.4:c.6488T>A MANE Select | NP_000123.1:p.Ile2163Asn | |
NM_019863.3:c.83T>A | NP_063916.1:p.Ile28Asn |