HGVS | Genome Assembly |
---|---|
NC_000016.10:g.11281193A>C , CM000678.2:g.11281193A>C | GRCh38 |
NC_000016.9:g.11375050A>C , CM000678.1:g.11375050A>C | GRCh37 |
NC_000016.8:g.11282551A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000312511.4:c.46T>G (PRM1) MANE Select | ENSP00000310515.3:p.Tyr16Asp | |
ENST00000649869.1:n.152+31415A>C (RMI2) | ||
ENST00000312511.3:c.46T>G (PRM1) | ENSP00000310515.3:p.Tyr16Asp | |
ENST00000572173.1:c.-515-14023A>C (RMI2) | ENSP00000461206.1:n.-515-14023A>C | |
ENST00000573910.1:n.160+31415A>C (RMI2) | ||
NM_002761.2:c.46T>G (PRM1) | NP_002752.1:p.Tyr16Asp | |
XR_933070.1:n.733+31415A>C | ||
XR_933070.3:n.876+31415A>C | ||
NM_002761.3:c.46T>G (PRM1) MANE Select | NP_002752.1:p.Tyr16Asp |