Linked Data
ClinVar Variation Id:
957632
ClinVar RCV Id:
RCV001230639
dbSNP Id:
rs1187519759
gnomAD v2:
17-66352928-G-C
gnomAD v4:
17-68356787-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68356787G>C , CM000679.2:g.68356787G>C | GRCh38 |
| NC_000017.10:g.66352928G>C , CM000679.1:g.66352928G>C | GRCh37 |
| NC_000017.9:g.63864523G>C | NCBI36 |
| NG_032814.1:g.102606G>C | |
| NG_032814.2:g.102699G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621439.5:c.687G>C MANE Select | ENSP00000480910.1:p.Gln229His | |
| ENST00000448504.6:c.687G>C | ENSP00000407193.2:p.Gln229His | |
| ENST00000452479.6:c.195G>C | ENSP00000413953.2:p.Gln65His | |
| ENST00000581032.1:n.261G>C | ||
| ENST00000582154.5:n.445G>C | ||
| ENST00000621439.4:c.687G>C | ENSP00000480910.1:p.Gln229His | |
| NM_001267727.1:c.687G>C | NP_001254656.1:p.Gln229His | |
| NM_014960.4:c.687G>C | NP_055775.2:p.Gln229His | |
| XM_005257170.2:c.687G>C | XP_005257227.1:p.Gln229His | |
| XM_005257172.2:c.687G>C | XP_005257229.1:p.Gln229His | |
| XM_006721777.2:c.687G>C | XP_006721840.2:p.Gln229His | |
| XM_006721779.2:c.687G>C | XP_006721842.1:p.Gln229His | |
| XM_011524535.1:c.687G>C | XP_011522837.1:p.Gln229His | |
| XM_011524536.1:c.687G>C | XP_011522838.1:p.Gln229His | |
| XM_011524537.1:c.687G>C | XP_011522839.1:p.Gln229His | |
| XM_011524538.1:c.687G>C | XP_011522840.1:p.Gln229His | |
| XM_011524539.1:c.687G>C | XP_011522841.1:p.Gln229His | |
| XM_011524540.1:c.687G>C | XP_011522842.1:p.Gln229His | |
| XM_011524541.1:c.687G>C | XP_011522843.1:p.Gln229His | |
| XM_011524542.1:c.687G>C | XP_011522844.1:p.Gln229His | |
| XM_011524543.1:c.687G>C | XP_011522845.1:p.Gln229His | |
| XM_011524544.1:c.687G>C | XP_011522846.1:p.Gln229His | |
| XM_011524545.1:c.687G>C | XP_011522847.1:p.Gln229His | |
| XR_934425.1:n.3506G>C | ||
| NM_001352899.1:c.687G>C | NP_001339828.1:p.Gln229His | |
| NM_001352900.1:c.687G>C | NP_001339829.1:p.Gln229His | |
| NM_001352901.1:c.687G>C | NP_001339830.1:p.Gln229His | |
| NM_001352902.1:c.687G>C | NP_001339831.1:p.Gln229His | |
| NM_001352903.1:c.687G>C | NP_001339832.1:p.Gln229His | |
| NM_001352904.1:c.687G>C | NP_001339833.1:p.Gln229His | |
| NM_001352905.1:c.687G>C | NP_001339834.1:p.Gln229His | |
| NM_001352906.1:c.687G>C | NP_001339835.1:p.Gln229His | |
| NM_001352907.1:c.687G>C | NP_001339836.1:p.Gln229His | |
| NM_001352909.1:c.639G>C | NP_001339838.1:p.Gln213His | |
| NM_001352910.1:c.687G>C | NP_001339839.1:p.Gln229His | |
| XM_011524536.2:c.687G>C | XP_011522838.1:p.Gln229His | |
| XM_017024360.2:c.687G>C | XP_016879849.1:p.Gln229His | |
| XM_017024365.1:c.687G>C | XP_016879854.1:p.Gln229His | |
| XM_017024368.1:c.687G>C | XP_016879857.1:p.Gln229His | |
| XM_024450658.1:c.195G>C | XP_024306426.1:p.Gln65His | |
| NM_001352900.2:c.687G>C | NP_001339829.1:p.Gln229His | |
| NM_001352901.2:c.687G>C | NP_001339830.1:p.Gln229His | |
| NM_001352902.2:c.687G>C | NP_001339831.1:p.Gln229His | |
| NM_001352903.2:c.687G>C | NP_001339832.1:p.Gln229His | |
| NM_001352905.2:c.687G>C | NP_001339834.1:p.Gln229His | |
| NM_001352907.2:c.687G>C | NP_001339836.1:p.Gln229His | |
| NM_001352909.2:c.639G>C | NP_001339838.1:p.Gln213His | |
| NM_001352910.2:c.687G>C | NP_001339839.1:p.Gln229His | |
| NM_014960.5:c.687G>C | NP_055775.2:p.Gln229His | |
| NM_001267727.2:c.687G>C MANE Select | NP_001254656.1:p.Gln229His | |
| NM_001352899.2:c.687G>C | NP_001339828.1:p.Gln229His | |
| NM_001352904.2:c.687G>C | NP_001339833.1:p.Gln229His | |
| NM_001352906.2:c.687G>C | NP_001339835.1:p.Gln229His |