HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18130775T>G , CM000668.2:g.18130775T>G | GRCh38 |
NC_000006.11:g.18131006T>G , CM000668.1:g.18131006T>G | GRCh37 |
NC_000006.10:g.18238985T>G | NCBI36 |
NG_012137.2:g.29369A>C | |
NG_012137.3:g.29369A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000309983.5:c.631A>C MANE Select | ENSP00000312304.4:p.Ile211Leu | |
ENST00000309983.4:c.631A>C | ENSP00000312304.4:p.Ile211Leu | |
NM_000367.3:c.631A>C | NP_000358.1:p.Ile211Leu | |
XM_011514839.1:c.586A>C | XP_011513141.1:p.Ile196Leu | |
XM_011514840.1:c.562A>C | XP_011513142.1:p.Ile188Leu | |
NM_000367.4:c.631A>C | NP_000358.1:p.Ile211Leu | |
NM_001346817.1:c.631A>C | NP_001333746.1:p.Ile211Leu | |
NM_001346818.1:c.586A>C | NP_001333747.1:p.Ile196Leu | |
NM_000367.5:c.631A>C MANE Select | NP_000358.1:p.Ile211Leu |