HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48468482G>T , CM000677.2:g.48468482G>T | GRCh38 |
NC_000015.9:g.48760679G>T , CM000677.1:g.48760679G>T | GRCh37 |
NC_000015.8:g.46547971G>T | NCBI36 |
NG_008805.2:g.182307C>A , LRG_778:g.182307C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4512C>A | ENSP00000453958.2:p.Asn1504Lys | |
ENST00000674301.2:c.4512C>A | ENSP00000501333.2:p.Asn1504Lys | |
ENST00000684448.1:n.3186C>A | ||
ENST00000316623.10:c.4512C>A MANE Select | ENSP00000325527.5:p.Asn1504Lys | |
ENST00000316623.9:c.4512C>A | ENSP00000325527.5:p.Asn1504Lys | |
ENST00000537463.6:c.*275C>A | ENSP00000440294.2:n.*275C>A | |
NM_000138.4:c.4512C>A , LRG_778t1:c.4512C>A | NP_000129.3:p.Asn1504Lys | |
NM_000138.5:c.4512C>A MANE Select | NP_000129.3:p.Asn1504Lys |