HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110812209G>C , CM000672.2:g.110812209G>C | GRCh38 |
NC_000010.10:g.112571967G>C , CM000672.1:g.112571967G>C | GRCh37 |
NC_000010.9:g.112561957G>C | NCBI36 |
NG_021177.1:g.172813G>C , LRG_382:g.172813G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369519.4:c.1881-69G>C MANE Select | ENSP00000358532.3:n.1881-69G>C | |
ENST00000369519.3:c.1881-69G>C | ENSP00000358532.3:n.1881-69G>C | |
NM_001134363.2:c.1881-69G>C | NP_001127835.2:n.1881-69G>C | |
XM_011539697.1:c.1497-69G>C | XP_011537999.1:n.1497-69G>C | |
XM_017016103.2:c.1716-69G>C | XP_016871592.1:n.1716-69G>C | |
XM_017016104.2:c.1497-69G>C | XP_016871593.1:n.1497-69G>C | |
NM_001134363.3:c.1881-69G>C MANE Select | NP_001127835.2:n.1881-69G>C |