Linked Data
ClinVar Variation Id:
3133727
ClinVar RCV Id:
RCV004429013
dbSNP Id:
rs374380288
ExAC:
11:61727042 A / C
gnomAD v2:
11-61727042-A-C
gnomAD v4:
11-61959570-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959570A>C , CM000673.2:g.61959570A>C | GRCh38 |
| NC_000011.9:g.61727042A>C , CM000673.1:g.61727042A>C | GRCh37 |
| NC_000011.8:g.61483618A>C | NCBI36 |
| NG_009033.1:g.14687A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.940A>C MANE Select | ENSP00000367282.4:p.Asn314His | |
| ENST00000378043.8:c.940A>C | ENSP00000367282.4:p.Asn314His | |
| ENST00000449131.6:c.760A>C | ENSP00000399709.2:p.Asn254His | |
| ENST00000524877.5:n.2571A>C | ||
| ENST00000524926.5:c.1143A>C | ENSP00000432681.1:p.Gly381= | |
| ENST00000526988.1:c.825A>C | ENSP00000433195.1:p.Gly275= | |
| ENST00000534553.5:c.164-2685A>C | ENSP00000431189.1:n.164-2685A>C | |
| NM_001139443.1:c.760A>C | NP_001132915.1:p.Asn254His | |
| NM_001300786.1:c.688-322A>C | NP_001287715.1:n.688-322A>C | |
| NM_001300787.1:c.760A>C | NP_001287716.1:p.Asn254His | |
| NM_004183.3:c.940A>C | NP_004174.1:p.Asn314His | |
| XM_005274210.2:c.940A>C | XP_005274267.1:p.Asn314His | |
| XM_005274215.2:c.622A>C | XP_005274272.1:p.Asn208His | |
| XM_005274216.2:c.963A>C | XP_005274273.1:p.Gly321= | |
| XM_005274218.3:c.825A>C | XP_005274275.1:p.Gly275= | |
| XM_005274219.2:c.867+1272A>C | XP_005274276.1:n.867+1272A>C | |
| XM_005274221.2:c.714+2106A>C | XP_005274278.1:n.714+2106A>C | |
| XM_011545229.1:c.940A>C | XP_011543531.1:p.Asn314His | |
| XM_011545230.1:c.847A>C | XP_011543532.1:p.Asn283His | |
| XM_011545231.1:c.622A>C | XP_011543533.1:p.Asn208His | |
| XM_011545232.1:c.1143A>C | XP_011543534.1:p.Gly381= | |
| XM_011545233.1:c.97A>C | XP_011543535.1:p.Asn33His | |
| NM_001363591.1:c.622A>C | NP_001350520.1:p.Asn208His | |
| NM_001363592.1:c.1143A>C | NP_001350521.1:p.Gly381= | |
| NM_001363593.1:c.-33A>C | NP_001350522.1:n.-33A>C | |
| NR_134580.1:n.1723A>C | ||
| XM_005274210.4:c.940A>C | XP_005274267.1:p.Asn314His | |
| XM_005274215.4:c.622A>C | XP_005274272.1:p.Asn208His | |
| XM_005274216.4:c.963A>C | XP_005274273.1:p.Gly321= | |
| XM_005274219.4:c.867+1272A>C | XP_005274276.1:n.867+1272A>C | |
| XM_005274221.4:c.714+2106A>C | XP_005274278.1:n.714+2106A>C | |
| XM_011545229.3:c.940A>C | XP_011543531.1:p.Asn314His | |
| XM_011545230.3:c.847A>C | XP_011543532.1:p.Asn283His | |
| XM_011545233.3:c.97A>C | XP_011543535.1:p.Asn33His | |
| XM_017018230.2:c.825A>C | XP_016873719.1:p.Gly275= | |
| XR_001747952.2:n.1641A>C | ||
| XR_001747953.2:n.1557+1272A>C | ||
| XR_001747954.2:n.1404+2106A>C | ||
| XR_001748245.1:n.196+162T>G | ||
| XR_002957249.1:n.196+162T>G | ||
| NM_004183.4:c.940A>C MANE Select | NP_004174.1:p.Asn314His | |
| NM_001139443.2:c.760A>C | NP_001132915.1:p.Asn254His | |
| NM_001300786.2:c.688-322A>C | NP_001287715.1:n.688-322A>C | |
| NM_001300787.2:c.760A>C | NP_001287716.1:p.Asn254His | |
| NM_001363591.2:c.622A>C | NP_001350520.1:p.Asn208His | |
| NM_001363593.2:c.-33A>C | NP_001350522.1:n.-33A>C | |
| NR_134580.2:n.1256A>C |