HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154837695A>G , CM000685.2:g.154837695A>G | GRCh38 |
NC_000023.10:g.154065970A>G , CM000685.1:g.154065970A>G | GRCh37 |
NC_000023.9:g.153719164A>G | NCBI36 |
NG_011403.1:g.190029T>C | |
NG_033065.1:g.1968T>C | |
NG_011403.2:g.190029T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6958T>C MANE Select | ENSP00000353393.4:p.Leu2320= | |
ENST00000644698.1:c.691T>C | ENSP00000495706.1:p.Leu231= | |
ENST00000330287.10:c.553T>C | ENSP00000327895.6:p.Leu185= | |
ENST00000360256.8:c.6958T>C | ENSP00000353393.4:p.Leu2320= | |
NM_000132.3:c.6958T>C | NP_000123.1:p.Leu2320= | |
NM_019863.2:c.553T>C | NP_063916.1:p.Leu185= | |
XM_011531126.1:c.6853T>C | XP_011529428.1:p.Leu2285= | |
NM_000132.4:c.6958T>C MANE Select | NP_000123.1:p.Leu2320= | |
NM_019863.3:c.553T>C | NP_063916.1:p.Leu185= |