HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154837404T>G , CM000685.2:g.154837404T>G | GRCh38 |
NC_000023.10:g.154065679T>G , CM000685.1:g.154065679T>G | GRCh37 |
NC_000023.9:g.153718873T>G | NCBI36 |
NG_011403.1:g.190320A>C | |
NG_033065.1:g.2259A>C | |
NG_011403.2:g.190320A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.*193A>C MANE Select | ENSP00000353393.4:n.*193A>C | |
ENST00000644698.1:c.*193A>C | ENSP00000495706.1:n.*193A>C | |
ENST00000330287.10:c.*193A>C | ENSP00000327895.6:n.*193A>C | |
ENST00000360256.8:c.*193A>C | ENSP00000353393.4:n.*193A>C | |
NM_000132.3:c.*193A>C | NP_000123.1:n.*193A>C | |
NM_019863.2:c.*193A>C | NP_063916.1:n.*193A>C | |
XM_011531126.1:c.*193A>C | XP_011529428.1:n.*193A>C | |
NM_000132.4:c.*193A>C MANE Select | NP_000123.1:n.*193A>C | |
NM_019863.3:c.*193A>C | NP_063916.1:n.*193A>C |