HGVS | Genome Assembly |
---|---|
NC_000023.11:g.106033599A>C , CM000685.2:g.106033599A>C | GRCh38 |
NC_000023.10:g.105277590A>C , CM000685.1:g.105277590A>C | GRCh37 |
NC_000023.9:g.105164246A>C | NCBI36 |
NG_021252.1:g.10129T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372563.2:c.1149T>G MANE Select | ENSP00000361644.1:p.Pro383= | |
ENST00000327674.8:c.1149T>G | ENSP00000329374.4:p.Pro383= | |
ENST00000372563.1:c.1149T>G | ENSP00000361644.1:p.Pro383= | |
NM_000354.5:c.1149T>G | NP_000345.2:p.Pro383= | |
XM_006724683.1:c.1179T>G | XP_006724746.1:p.Pro393= | |
XM_005262180.4:c.*94T>G | XP_005262237.1:n.*94T>G | |
XM_006724683.2:c.1179T>G | XP_006724746.1:p.Pro393= | |
NM_000354.6:c.1149T>G MANE Select | NP_000345.2:p.Pro383= |