HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110812152T>C , CM000672.2:g.110812152T>C | GRCh38 |
NC_000010.10:g.112571910T>C , CM000672.1:g.112571910T>C | GRCh37 |
NC_000010.9:g.112561900T>C | NCBI36 |
NG_021177.1:g.172756T>C , LRG_382:g.172756T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369519.4:c.1881-126T>C MANE Select | ENSP00000358532.3:n.1881-126T>C | |
ENST00000369519.3:c.1881-126T>C | ENSP00000358532.3:n.1881-126T>C | |
NM_001134363.2:c.1881-126T>C | NP_001127835.2:n.1881-126T>C | |
XM_011539697.1:c.1497-126T>C | XP_011537999.1:n.1497-126T>C | |
XM_017016103.2:c.1716-126T>C | XP_016871592.1:n.1716-126T>C | |
XM_017016104.2:c.1497-126T>C | XP_016871593.1:n.1497-126T>C | |
NM_001134363.3:c.1881-126T>C MANE Select | NP_001127835.2:n.1881-126T>C |