Linked Data
dbSNP Id:
rs764700551
ExAC:
17:73518261 A / C
gnomAD v2:
17-73518261-A-C
gnomAD v3:
17-75522180-A-C
gnomAD v4:
17-75522180-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75522180A>C , CM000679.2:g.75522180A>C | GRCh38 |
| NC_000017.10:g.73518261A>C , CM000679.1:g.73518261A>C | GRCh37 |
| NC_000017.9:g.71029856A>C | NCBI36 |
| NG_013041.1:g.10653A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1099A>C MANE Select | ENSP00000327487.6:p.Asn367His | |
| ENST00000434205.8:c.796A>C | ENSP00000406559.4:p.Asn266His | |
| ENST00000545228.3:c.1099A>C | ENSP00000438169.3:p.Asn367His | |
| ENST00000579449.2:n.898A>C | ||
| ENST00000580013.6:n.1302A>C | ||
| ENST00000679370.1:n.1680A>C | ||
| ENST00000679429.1:c.*557A>C | ENSP00000505403.1:n.*557A>C | |
| ENST00000679443.1:n.1168A>C | ||
| ENST00000679782.1:c.1099A>C | ENSP00000505995.1:p.Asn367His | |
| ENST00000679919.1:n.1168A>C | ||
| ENST00000679928.1:c.*710A>C | ENSP00000506071.1:n.*710A>C | |
| ENST00000680528.1:n.1124A>C | ||
| ENST00000680999.1:c.1099A>C | ENSP00000504984.1:p.Asn367His | |
| ENST00000681282.1:c.*345A>C | ENSP00000506339.1:n.*345A>C | |
| ENST00000333213.10:c.1099A>C | ENSP00000327487.6:p.Asn367His | |
| ENST00000545228.2:c.188A>C | ||
| ENST00000583173.5:c.632A>C | ENSP00000463619.1:n.632A>C | |
| NM_207346.2:c.1099A>C | NP_997229.2:p.Asn367His | |
| XM_005257229.2:c.1099A>C | XP_005257286.1:p.Asn367His | |
| XM_006721821.2:c.796A>C | XP_006721884.1:p.Asn266His | |
| XM_011524616.1:c.1099A>C | XP_011522918.1:p.Asn367His | |
| XM_011524617.1:c.1099A>C | XP_011522919.1:p.Asn367His | |
| XM_011524618.1:c.1099A>C | XP_011522920.1:p.Asn367His | |
| XR_243646.2:n.1129A>C | ||
| XM_005257229.4:c.1099A>C | XP_005257286.1:p.Asn367His | |
| XR_243646.4:n.1135A>C | ||
| NM_207346.3:c.1099A>C MANE Select | NP_997229.2:p.Asn367His |