HGVS | Genome Assembly |
---|---|
NC_000005.10:g.139273935A>C , CM000667.2:g.139273935A>C | GRCh38 |
NC_000005.9:g.138609624A>C , CM000667.1:g.138609624A>C | GRCh37 |
NC_000005.8:g.138637523A>C | NCBI36 |
NG_012846.1:g.4833A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000506147.5:c.-245A>C | ENSP00000423521.1:n.-245A>C | |
ENST00000508744.1:n.466-281T>G (SIL1) | ||
ENST00000509400.5:n.293+6633T>G (SIL1) | ||
ENST00000509990.5:c.-513A>C | ENSP00000423533.1:n.-513A>C | |
ENST00000512107.5:c.-462A>C | ENSP00000423695.1:n.-462A>C | |
NM_001194954.1:c.-513A>C (MATR3) | NP_001181883.1:n.-513A>C | |
NM_001282278.1:c.-520A>C (MATR3) | NP_001269207.1:n.-520A>C | |
NM_199189.2:c.-595A>C (MATR3) | NP_954659.1:n.-595A>C | |
NR_003141.3:n.184A>C (SNHG4) | ||
NR_036536.1:n.184A>C (SNHG4) |