Linked Data
dbSNP Id:
rs201855561
ExAC:
15:68628045 C / T
gnomAD v2:
15-68628045-C-T
gnomAD v3:
15-68335707-C-T
gnomAD v4:
15-68335707-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68335707C>T , CM000677.2:g.68335707C>T | GRCh38 |
| NC_000015.9:g.68628045C>T , CM000677.1:g.68628045C>T | GRCh37 |
| NC_000015.8:g.66415099C>T | NCBI36 |
| NG_046911.1:g.101454G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315757.9:c.1415G>A MANE Select | ENSP00000327290.7:p.Arg472Gln | |
| ENST00000315757.8:c.1415G>A | ENSP00000327290.7:p.Arg472Gln | |
| ENST00000423218.6:c.1415G>A | ENSP00000403392.2:p.Arg472Gln | |
| ENST00000566429.1:n.304G>A | ||
| ENST00000569346.5:n.394G>A | ||
| NM_001004439.1:c.1415G>A | NP_001004439.1:p.Arg472Gln | |
| XM_005254228.2:c.1109G>A | XP_005254285.1:p.Arg370Gln | |
| XM_011521363.1:c.1208G>A | XP_011519665.1:p.Arg403Gln | |
| XM_005254228.3:c.1109G>A | XP_005254285.1:p.Arg370Gln | |
| XM_011521363.2:c.1208G>A | XP_011519665.1:p.Arg403Gln | |
| NM_001004439.2:c.1415G>A MANE Select | NP_001004439.1:p.Arg472Gln |