Linked Data
dbSNP Id:
rs752576315
ExAC:
7:65425949 T / G
gnomAD v2:
7-65425949-T-G
gnomAD v3:
7-65960962-T-G
gnomAD v4:
7-65960962-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960962T>G , CM000669.2:g.65960962T>G | GRCh38 |
| NC_000007.13:g.65425949T>G , CM000669.1:g.65425949T>G | GRCh37 |
| NC_000007.12:g.65063384T>G | NCBI36 |
| NG_016197.1:g.26353A>C | |
| NG_051954.1:g.92864T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1891A>C MANE Select | ENSP00000302728.4:p.Asn631His | |
| ENST00000304895.8:c.1891A>C | ENSP00000302728.4:p.Asn631His | |
| ENST00000421103.5:c.1453A>C | ENSP00000391390.1:p.Asn485His | |
| ENST00000430730.5:c.*1158A>C | ENSP00000411859.1:n.*1158A>C | |
| ENST00000447929.5:c.*1271A>C | ENSP00000411262.1:n.*1271A>C | |
| ENST00000466883.5:n.2281A>C | ||
| NM_000181.3:c.1891A>C | NP_000172.2:p.Asn631His | |
| NM_001284290.1:c.1453A>C | NP_001271219.1:p.Asn485His | |
| NM_001293104.1:c.1321A>C | NP_001280033.1:p.Asn441His | |
| NM_001293105.1:c.1234A>C | NP_001280034.1:p.Asn412His | |
| NR_120531.1:n.1937A>C | ||
| XM_005250297.3:c.1738A>C | XP_005250354.1:p.Asn580His | |
| XM_011516113.1:c.1390A>C | XP_011514415.1:p.Asn464His | |
| XM_011516114.1:c.1219A>C | XP_011514416.1:p.Asn407His | |
| XM_005250297.4:c.1738A>C | XP_005250354.1:p.Asn580His | |
| XM_011516114.2:c.1219A>C | XP_011514416.1:p.Asn407His | |
| XM_017012091.1:c.1237A>C | XP_016867580.1:p.Asn413His | |
| XM_017012092.1:c.1168A>C | XP_016867581.1:p.Asn390His | |
| XM_017012093.2:c.1066A>C | XP_016867582.1:p.Asn356His | |
| XR_001744658.2:n.1698A>C | ||
| XR_001744659.2:n.1811A>C | ||
| XR_001744660.2:n.1743A>C | ||
| XR_001744661.2:n.1658A>C | ||
| XR_927461.3:n.1896A>C | ||
| NM_000181.4:c.1891A>C MANE Select | NP_000172.2:p.Asn631His | |
| NM_001284290.2:c.1453A>C | NP_001271219.1:p.Asn485His | |
| NM_001293104.2:c.1321A>C | NP_001280033.1:p.Asn441His | |
| NM_001293105.2:c.1234A>C | NP_001280034.1:p.Asn412His | |
| NR_120531.2:n.1836A>C |