Linked Data
gnomAD v4:
16-11281149-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11281149G>C , CM000678.2:g.11281149G>C | GRCh38 |
| NC_000016.9:g.11375006G>C , CM000678.1:g.11375006G>C | GRCh37 |
| NC_000016.8:g.11282507G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312511.4:c.90C>G (PRM1) MANE Select | ENSP00000310515.3:p.Cys30Trp | |
| ENST00000649869.1:n.152+31371G>C (RMI2) | ||
| ENST00000312511.3:c.90C>G (PRM1) | ENSP00000310515.3:p.Cys30Trp | |
| ENST00000572173.1:c.-515-14067G>C (RMI2) | ENSP00000461206.1:n.-515-14067G>C | |
| ENST00000573910.1:n.160+31371G>C (RMI2) | ||
| NM_002761.2:c.90C>G (PRM1) | NP_002752.1:p.Cys30Trp | |
| XR_933070.1:n.733+31371G>C | ||
| XR_933070.3:n.876+31371G>C | ||
| NM_002761.3:c.90C>G (PRM1) MANE Select | NP_002752.1:p.Cys30Trp |