Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816574G>C , CM000681.2:g.4816574G>C | GRCh38 |
| NC_000019.9:g.4816586G>C , CM000681.1:g.4816586G>C | GRCh37 |
| NC_000019.8:g.4767586G>C | NCBI36 |
| NG_031998.1:g.20169C>G , LRG_358:g.20169C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1804C>G MANE Select | ENSP00000248244.4:p.Pro602Ala | |
| ENST00000248244.5:c.1804C>G | ENSP00000248244.4:p.Pro602Ala | |
| ENST00000621756.1:c.1387C>G | ENSP00000479467.1:p.Pro463Ala | |
| NM_182919.3:c.1804C>G , LRG_358t1:c.1804C>G | NP_891549.1:p.Pro602Ala | |
| NM_001385678.1:c.1762C>G | NP_001372607.1:p.Pro588Ala | |
| NM_001385679.1:c.1669C>G | NP_001372608.1:p.Pro557Ala | |
| NM_001385680.1:c.1162C>G | NP_001372609.1:p.Pro388Ala | |
| NM_182919.4:c.1804C>G MANE Select | NP_891549.1:p.Pro602Ala |