Linked Data
dbSNP Id:
rs375387283
ExAC:
2:215855562 T / C
gnomAD v2:
2-215855562-T-C
gnomAD v3:
2-214990838-T-C
gnomAD v4:
2-214990838-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214990838T>C , CM000664.2:g.214990838T>C | GRCh38 |
| NC_000002.11:g.215855562T>C , CM000664.1:g.215855562T>C | GRCh37 |
| NC_000002.10:g.215563807T>C | NCBI36 |
| NG_007074.1:g.152590A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.3488A>G MANE Select | ENSP00000272895.7:p.Tyr1163Cys | |
| ENST00000272895.11:c.3488A>G | ENSP00000272895.7:p.Tyr1163Cys | |
| ENST00000389661.4:c.2534A>G | ENSP00000374312.4:p.Tyr845Cys | |
| NM_015657.3:c.2534A>G | NP_056472.2:p.Tyr845Cys | |
| NM_173076.2:c.3488A>G | NP_775099.2:p.Tyr1163Cys | |
| NR_103740.1:n.3788A>G | ||
| XM_011510951.1:c.3488A>G | XP_011509253.1:p.Tyr1163Cys | |
| XM_011510952.1:c.3488A>G | XP_011509254.1:p.Tyr1163Cys | |
| XM_011510951.2:c.3488A>G | XP_011509253.1:p.Tyr1163Cys | |
| NM_173076.3:c.3488A>G MANE Select | NP_775099.2:p.Tyr1163Cys | |
| NR_103740.2:n.3986A>G | ||
| NM_015657.4:c.2534A>G | NP_056472.2:p.Tyr845Cys |