HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848372A>G , CM000681.2:g.40848372A>G | GRCh38 |
NC_000019.9:g.41354277A>G , CM000681.1:g.41354277A>G | GRCh37 |
NC_000019.8:g.46046117A>G | NCBI36 |
NG_008377.1:g.7076T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.501T>C MANE Select | ENSP00000301141.4:p.Asn167= | |
ENST00000301141.9:c.501T>C | ENSP00000301141.4:p.Asn167= | |
ENST00000596719.5:n.352T>C | ||
ENST00000600495.1:c.*313T>C | ENSP00000472905.1:n.*313T>C | |
ENST00000601627.1:c.120-43619A>G | ||
ENST00000610301.1:c.501T>C | ENSP00000477899.1:p.Asn167= | |
NM_000762.5:c.501T>C | NP_000753.3:p.Asn167= | |
NM_000762.6:c.501T>C MANE Select | NP_000753.3:p.Asn167= |