HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48487160A>C , CM000677.2:g.48487160A>C | GRCh38 |
NC_000015.9:g.48779357A>C , CM000677.1:g.48779357A>C | GRCh37 |
NC_000015.8:g.46566649A>C | NCBI36 |
NG_008805.2:g.163629T>G , LRG_778:g.163629T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.3504T>G | ENSP00000453958.2:p.Asn1168Lys | |
ENST00000674301.2:c.3504T>G | ENSP00000501333.2:p.Asn1168Lys | |
ENST00000684448.1:n.2178T>G | ||
ENST00000316623.10:c.3504T>G MANE Select | ENSP00000325527.5:p.Asn1168Lys | |
ENST00000316623.9:c.3504T>G | ENSP00000325527.5:p.Asn1168Lys | |
ENST00000537463.6:c.637-12510T>G | ENSP00000440294.2:n.637-12510T>G | |
NM_000138.4:c.3504T>G , LRG_778t1:c.3504T>G | NP_000129.3:p.Asn1168Lys | |
NM_000138.5:c.3504T>G MANE Select | NP_000129.3:p.Asn1168Lys |