HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154863111G>A , CM000685.2:g.154863111G>A | GRCh38 |
NC_000023.10:g.154091386G>A , CM000685.1:g.154091386G>A | GRCh37 |
NC_000023.9:g.153744580G>A | NCBI36 |
NG_011403.1:g.164613C>T | |
NG_011403.2:g.164613C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6546C>T MANE Select | ENSP00000353393.4:p.Arg2182= | |
ENST00000644698.1:c.279C>T | ENSP00000495706.1:p.Arg93= | |
ENST00000330287.10:c.141C>T | ENSP00000327895.6:p.Arg47= | |
ENST00000360256.8:c.6546C>T | ENSP00000353393.4:p.Arg2182= | |
NM_000132.3:c.6546C>T | NP_000123.1:p.Arg2182= | |
NM_019863.2:c.141C>T | NP_063916.1:p.Arg47= | |
XM_011531126.1:c.6441C>T | XP_011529428.1:p.Arg2147= | |
NM_000132.4:c.6546C>T MANE Select | NP_000123.1:p.Arg2182= | |
NM_019863.3:c.141C>T | NP_063916.1:p.Arg47= |