HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137568977T>C , CM000685.2:g.137568977T>C | GRCh38 |
NC_000023.10:g.136651136T>C , CM000685.1:g.136651136T>C | GRCh37 |
NC_000023.9:g.136478802T>C | NCBI36 |
NG_008115.1:g.7791T>C | |
NG_008115.2:g.7851T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287538.10:c.1136T>C MANE Select | ENSP00000287538.5:p.Met379Thr | |
ENST00000287538.9:c.1136T>C | ENSP00000287538.5:p.Met379Thr | |
ENST00000370606.3:c.1136T>C | ENSP00000359638.3:p.Met379Thr | |
ENST00000478471.1:n.173T>C | ||
NM_003413.3:c.1136T>C | NP_003404.1:p.Met379Thr | |
NM_001330661.1:c.1136T>C | NP_001317590.1:p.Met379Thr | |
NM_003413.4:c.1136T>C MANE Select | NP_003404.1:p.Met379Thr |