Linked Data
gnomAD v4:
18-31541300-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541300C>G , CM000680.2:g.31541300C>G | GRCh38 |
| NC_000018.9:g.29121263C>G , CM000680.1:g.29121263C>G | GRCh37 |
| NC_000018.8:g.27375261C>G | NCBI36 |
| NG_007072.3:g.48059C>G , LRG_397:g.48059C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1987C>G MANE Select | ENSP00000261590.8:p.Pro663Ala | |
| ENST00000261590.12:c.1987C>G | ENSP00000261590.8:p.Pro663Ala | |
| NM_001943.3:c.1987C>G , LRG_397t1:c.1987C>G | NP_001934.2:p.Pro663Ala | |
| NM_001943.4:c.1987C>G | NP_001934.2:p.Pro663Ala | |
| XM_024451095.1:c.1453C>G | XP_024306863.1:p.Pro485Ala | |
| NM_001943.5:c.1987C>G MANE Select | NP_001934.2:p.Pro663Ala |