Linked Data
dbSNP Id:
rs768977289
ExAC:
15:100589062 C / T
gnomAD v2:
15-100589062-C-T
gnomAD v3:
15-100048857-C-T
gnomAD v4:
15-100048857-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100048857C>T , CM000677.2:g.100048857C>T | GRCh38 |
| NC_000015.9:g.100589062C>T , CM000677.1:g.100589062C>T | GRCh37 |
| NC_000015.8:g.98406585C>T | NCBI36 |
| NG_016287.1:g.298122G>A | |
| NG_016287.2:g.298122G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268070.9:c.2591G>A MANE Select | ENSP00000268070.4:p.Arg864Gln | |
| ENST00000568565.2:c.2672G>A | ENSP00000456161.2:p.Arg891Gln | |
| ENST00000268070.8:c.2591G>A | ENSP00000268070.4:p.Arg864Gln | |
| NM_139057.2:c.2591G>A | NP_620688.2:p.Arg864Gln | |
| XM_005254872.2:c.2672G>A | XP_005254929.1:p.Arg891Gln | |
| XM_011521312.1:c.2741G>A | XP_011519614.1:p.Arg914Gln | |
| NM_139057.3:c.2591G>A | NP_620688.2:p.Arg864Gln | |
| XM_005254872.3:c.2672G>A | XP_005254929.1:p.Arg891Gln | |
| XM_011521312.2:c.2741G>A | XP_011519614.1:p.Arg914Gln | |
| XM_017021973.2:c.2873G>A | XP_016877462.1:p.Arg958Gln | |
| XM_017021974.1:c.2873G>A | XP_016877463.1:p.Arg958Gln | |
| XM_017021975.1:c.2804G>A | XP_016877464.1:p.Arg935Gln | |
| XM_017021976.1:c.2144G>A | XP_016877465.1:p.Arg715Gln | |
| XM_017021978.1:c.1775G>A | XP_016877467.1:p.Arg592Gln | |
| XM_017021979.1:c.1553G>A | XP_016877468.1:p.Arg518Gln | |
| XM_017021980.1:c.1553G>A | XP_016877469.1:p.Arg518Gln | |
| XM_017021982.1:c.1262G>A | XP_016877471.1:p.Arg421Gln | |
| XM_017021983.1:c.1046G>A | XP_016877472.1:p.Arg349Gln | |
| NM_139057.4:c.2591G>A MANE Select | NP_620688.2:p.Arg864Gln |