Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41348371G>C , CM000681.2:g.41348371G>C | GRCh38 |
| NC_000019.9:g.41854276G>C , CM000681.1:g.41854276G>C | GRCh37 |
| NC_000019.8:g.46546116G>C | NCBI36 |
| NG_013364.1:g.10556C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.440C>G MANE Select | ENSP00000221930.4:p.Pro147Arg | |
| ENST00000600196.2:c.440C>G | ENSP00000504008.1:p.Pro147Arg | |
| ENST00000677934.1:c.440C>G | ENSP00000504769.1:p.Pro147Arg | |
| ENST00000221930.5:c.440C>G | ENSP00000221930.4:p.Pro147Arg | |
| NM_000660.5:c.440C>G | NP_000651.3:p.Pro147Arg | |
| XM_011527242.1:c.440C>G | XP_011525544.1:p.Pro147Arg | |
| NM_000660.6:c.440C>G | NP_000651.3:p.Pro147Arg | |
| XM_011527242.2:c.440C>G | XP_011525544.1:p.Pro147Arg | |
| NM_000660.7:c.440C>G MANE Select | NP_000651.3:p.Pro147Arg |