Linked Data
dbSNP Id:
rs557347158
ExAC:
7:65447010 T / C
gnomAD v2:
7-65447010-T-C
gnomAD v3:
7-65982023-T-C
gnomAD v4:
7-65982023-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65982023T>C , CM000669.2:g.65982023T>C | GRCh38 |
| NC_000007.13:g.65447010T>C , CM000669.1:g.65447010T>C | GRCh37 |
| NC_000007.12:g.65084445T>C | NCBI36 |
| NG_016197.1:g.5292A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.161A>G MANE Select | ENSP00000302728.4:p.Asn54Ser | |
| ENST00000304895.8:c.161A>G | ENSP00000302728.4:p.Asn54Ser | |
| ENST00000421103.5:c.161A>G | ENSP00000391390.1:p.Asn54Ser | |
| ENST00000430730.5:c.161A>G | ENSP00000411859.1:p.Asn54Ser | |
| ENST00000446111.1:c.161A>G | ENSP00000416793.1:p.Asn54Ser | |
| ENST00000447929.5:c.161A>G | ENSP00000411262.1:p.Asn54Ser | |
| ENST00000475316.5:n.66A>G | ||
| NM_000181.3:c.161A>G | NP_000172.2:p.Asn54Ser | |
| NM_001284290.1:c.161A>G | NP_001271219.1:p.Asn54Ser | |
| NM_001293104.1:c.-225A>G | NP_001280033.1:n.-225A>G | |
| NM_001293105.1:c.-169A>G | NP_001280034.1:n.-169A>G | |
| NR_120531.1:n.292A>G | ||
| XM_005250297.3:c.161A>G | XP_005250354.1:p.Asn54Ser | |
| XM_011516113.1:c.-169A>G | XP_011514415.1:n.-169A>G | |
| XR_927461.1:n.287A>G | ||
| XM_005250297.4:c.161A>G | XP_005250354.1:p.Asn54Ser | |
| XM_011516114.2:c.-525A>G | XP_011514416.1:n.-525A>G | |
| XM_017012091.1:c.-169A>G | XP_016867580.1:n.-169A>G | |
| XM_017012092.1:c.-225A>G | XP_016867581.1:n.-225A>G | |
| XM_017012093.2:c.-525A>G | XP_016867582.1:n.-525A>G | |
| XR_001744658.2:n.206A>G | ||
| XR_001744659.2:n.206A>G | ||
| XR_001744660.2:n.206A>G | ||
| XR_001744661.2:n.206A>G | ||
| XR_927461.3:n.206A>G | ||
| NM_000181.4:c.161A>G MANE Select | NP_000172.2:p.Asn54Ser | |
| NM_001284290.2:c.161A>G | NP_001271219.1:p.Asn54Ser | |
| NM_001293104.2:c.-225A>G | NP_001280033.1:n.-225A>G | |
| NM_001293105.2:c.-169A>G | NP_001280034.1:n.-169A>G | |
| NR_120531.2:n.191A>G |