Linked Data
dbSNP Id:
rs758331241
ExAC:
18:13884773 G / C
gnomAD v2:
18-13884773-G-C
gnomAD v3:
18-13884774-G-C
gnomAD v4:
18-13884774-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884774G>C , CM000680.2:g.13884774G>C | GRCh38 |
| NC_000018.9:g.13884773G>C , CM000680.1:g.13884773G>C | GRCh37 |
| NC_000018.8:g.13874773G>C | NCBI36 |
| NG_011819.1:g.35763C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.745C>G MANE Select | ENSP00000333821.2:p.Pro249Ala | |
| ENST00000327606.3:c.745C>G | ENSP00000333821.2:p.Pro249Ala | |
| NM_000529.2:c.745C>G MANE Select | NP_000520.1:p.Pro249Ala | |
| NM_001291911.1:c.745C>G | NP_001278840.1:p.Pro249Ala | |
| XM_017025781.1:c.745C>G | XP_016881270.1:p.Pro249Ala |