HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135833044T>C , CM000664.2:g.135833044T>C | GRCh38 |
NC_000002.11:g.136590614T>C , CM000664.1:g.136590614T>C | GRCh37 |
NC_000002.10:g.136307084T>C | NCBI36 |
NG_008104.2:g.27126A>G , LRG_338:g.27126A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.720+67A>G MANE Select | ENSP00000264162.2:n.720+67A>G | |
ENST00000264162.6:c.720+67A>G | ENSP00000264162.2:n.720+67A>G | |
NM_002299.2:c.720+67A>G , LRG_338t1:c.720+67A>G | NP_002290.2:n.720+67A>G | |
NM_002299.3:c.720+67A>G | NP_002290.2:n.720+67A>G | |
XM_017004088.2:c.720+67A>G | XP_016859577.1:n.720+67A>G | |
NM_002299.4:c.720+67A>G MANE Select | NP_002290.2:n.720+67A>G |