Linked Data
dbSNP Id:
rs550398099
ExAC:
16:30998200 C / G
gnomAD v2:
16-30998200-C-G
gnomAD v3:
16-30986879-C-G
gnomAD v4:
16-30986879-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30986879C>G , CM000678.2:g.30986879C>G | GRCh38 |
| NC_000016.9:g.30998200C>G , CM000678.1:g.30998200C>G | GRCh37 |
| NC_000016.8:g.30905701C>G | NCBI36 |
| NG_012346.1:g.6682C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297679.10:c.571C>G MANE Select | ENSP00000297679.5:p.Pro191Ala | |
| ENST00000262520.10:c.531+175C>G | ENSP00000262520.6:n.531+175C>G | |
| ENST00000297679.9:c.571C>G | ENSP00000297679.5:p.Pro191Ala | |
| NM_001142777.1:c.531+175C>G | NP_001136249.1:n.531+175C>G | |
| NM_001142778.1:c.531+175C>G | NP_001136250.1:n.531+175C>G | |
| NM_025193.3:c.571C>G | NP_079469.2:p.Pro191Ala | |
| XM_005255601.3:c.571C>G | XP_005255658.2:p.Pro191Ala | |
| XM_011545960.1:c.571C>G | XP_011544262.1:p.Pro191Ala | |
| XM_011545961.1:c.571C>G | XP_011544263.1:p.Pro191Ala | |
| XM_011545962.1:c.531+175C>G | XP_011544264.1:n.531+175C>G | |
| XM_011545960.2:c.571C>G | XP_011544262.1:p.Pro191Ala | |
| XM_011545962.2:c.531+175C>G | XP_011544264.1:n.531+175C>G | |
| XM_017023732.1:c.531+175C>G | XP_016879221.1:n.531+175C>G | |
| NM_025193.4:c.571C>G MANE Select | NP_079469.2:p.Pro191Ala | |
| NM_001142777.2:c.531+175C>G | NP_001136249.1:n.531+175C>G | |
| NM_001142778.2:c.531+175C>G | NP_001136250.1:n.531+175C>G |