HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154863086T>C , CM000685.2:g.154863086T>C | GRCh38 |
NC_000023.10:g.154091361T>C , CM000685.1:g.154091361T>C | GRCh37 |
NC_000023.9:g.153744555T>C | NCBI36 |
NG_011403.1:g.164638A>G | |
NG_011403.2:g.164638A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6571A>G MANE Select | ENSP00000353393.4:p.Asn2191Asp | |
ENST00000644698.1:c.304A>G | ENSP00000495706.1:p.Asn102Asp | |
ENST00000330287.10:c.166A>G | ENSP00000327895.6:p.Asn56Asp | |
ENST00000360256.8:c.6571A>G | ENSP00000353393.4:p.Asn2191Asp | |
NM_000132.3:c.6571A>G | NP_000123.1:p.Asn2191Asp | |
NM_019863.2:c.166A>G | NP_063916.1:p.Asn56Asp | |
XM_011531126.1:c.6466A>G | XP_011529428.1:p.Asn2156Asp | |
NM_000132.4:c.6571A>G MANE Select | NP_000123.1:p.Asn2191Asp | |
NM_019863.3:c.166A>G | NP_063916.1:p.Asn56Asp |