Linked Data
gnomAD v4:
10-110812228-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812228G>C , CM000672.2:g.110812228G>C | GRCh38 |
| NC_000010.10:g.112571986G>C , CM000672.1:g.112571986G>C | GRCh37 |
| NC_000010.9:g.112561976G>C | NCBI36 |
| NG_021177.1:g.172832G>C , LRG_382:g.172832G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.1881-50G>C MANE Select | ENSP00000358532.3:n.1881-50G>C | |
| ENST00000369519.3:c.1881-50G>C | ENSP00000358532.3:n.1881-50G>C | |
| NM_001134363.2:c.1881-50G>C | NP_001127835.2:n.1881-50G>C | |
| XM_011539697.1:c.1497-50G>C | XP_011537999.1:n.1497-50G>C | |
| XM_017016103.2:c.1716-50G>C | XP_016871592.1:n.1716-50G>C | |
| XM_017016104.2:c.1497-50G>C | XP_016871593.1:n.1497-50G>C | |
| NM_001134363.3:c.1881-50G>C MANE Select | NP_001127835.2:n.1881-50G>C |