HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134835003G>C , CM000671.2:g.134835003G>C | GRCh38 |
NC_000009.11:g.137726849G>C , CM000671.1:g.137726849G>C | GRCh37 |
NC_000009.10:g.136866670G>C | NCBI36 |
NG_008030.1:g.198198G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371820.4:c.5169G>C | ENSP00000360885.4:p.Val1723= | |
ENST00000371817.8:c.5169G>C MANE Select | ENSP00000360882.3:p.Val1723= | |
ENST00000371817.7:c.5169G>C | ENSP00000360882.3:p.Val1723= | |
ENST00000371820.3:c.427G>C | ||
ENST00000618395.4:c.5169G>C | ENSP00000481360.1:p.Val1723= | |
NM_000093.4:c.5169G>C | NP_000084.3:p.Val1723= | |
NM_001278074.1:c.5169G>C | NP_001265003.1:p.Val1723= | |
NR_103451.2:n.71-14794C>G | ||
XR_929712.1:n.5853G>C | ||
XR_929713.1:n.5721G>C | ||
NM_000093.5:c.5169G>C MANE Select | NP_000084.3:p.Val1723= |