HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667377T>G , CM000683.2:g.31667377T>G | GRCh38 |
NC_000021.8:g.33039690T>G , CM000683.1:g.33039690T>G | GRCh37 |
NC_000021.7:g.31961561T>G | NCBI36 |
NG_008689.1:g.12756T>G , LRG_652:g.12756T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.357+2T>G MANE Select | ENSP00000270142.7:n.357+2T>G | |
ENST00000270142.10:c.357+2T>G | ENSP00000270142.6:n.357+2T>G | |
ENST00000389995.4:c.300+2T>G | ENSP00000374645.4:n.300+2T>G | |
ENST00000470944.1:n.1285+2T>G | ||
NM_000454.4:c.357+2T>G , LRG_652t1:c.357+2T>G | NP_000445.1:n.357+2T>G | |
NM_000454.5:c.357+2T>G MANE Select | NP_000445.1:n.357+2T>G |