Linked Data
dbSNP Id:
rs774717171
ExAC:
19:39998015 C / G
gnomAD v2:
19-39998015-C-G
gnomAD v4:
19-39507375-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39507375C>G , CM000681.2:g.39507375C>G | GRCh38 |
| NC_000019.9:g.39998015C>G , CM000681.1:g.39998015C>G | GRCh37 |
| NC_000019.8:g.44689855C>G | NCBI36 |
| NG_008256.1:g.13459C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.1430C>G MANE Select | ENSP00000348810.4:p.Pro477Arg | |
| ENST00000205143.4:c.1430C>G | ENSP00000205143.3:p.Pro477Arg | |
| ENST00000356433.9:c.1430C>G | ENSP00000348810.4:p.Pro477Arg | |
| NM_016941.3:c.1430C>G | NP_058637.1:p.Pro477Arg | |
| NM_203486.2:c.1430C>G | NP_982353.1:p.Pro477Arg | |
| NM_016941.4:c.1430C>G | NP_058637.1:p.Pro477Arg | |
| NM_203486.3:c.1430C>G MANE Select | NP_982353.1:p.Pro477Arg |