HGVS | Genome Assembly |
---|---|
NC_000009.12:g.91950117C>G , CM000671.2:g.91950117C>G | GRCh38 |
NC_000009.11:g.94712399C>G , CM000671.1:g.94712399C>G | GRCh37 |
NC_000009.10:g.93752220C>G | NCBI36 |
NG_008089.1:g.5046G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375708.4:c.-154G>C MANE Select | ENSP00000364860.3:n.-154G>C | |
ENST00000375708.3:c.-154G>C | ENSP00000364860.3:n.-154G>C | |
NM_004560.3:c.-154G>C | NP_004551.2:n.-154G>C | |
NM_001318204.1:c.-154G>C | NP_001305133.1:n.-154G>C | |
XR_001746315.1:n.90G>C | ||
NM_004560.4:c.-154G>C MANE Select | NP_004551.2:n.-154G>C | |
NM_001318204.2:c.-154G>C | NP_001305133.1:n.-154G>C |