Linked Data
dbSNP Id:
rs780226056
ExAC:
2:215876300 T / G
gnomAD v2:
2-215876300-T-G
gnomAD v3:
2-215011576-T-G
gnomAD v4:
2-215011576-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215011576T>G , CM000664.2:g.215011576T>G | GRCh38 |
| NC_000002.11:g.215876300T>G , CM000664.1:g.215876300T>G | GRCh37 |
| NC_000002.10:g.215584545T>G | NCBI36 |
| NG_007074.1:g.131852A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.2195A>C MANE Select | ENSP00000272895.7:p.Gln732Pro | |
| ENST00000272895.11:c.2195A>C | ENSP00000272895.7:p.Gln732Pro | |
| ENST00000389661.4:c.1241A>C | ENSP00000374312.4:p.Gln414Pro | |
| NM_015657.3:c.1241A>C | NP_056472.2:p.Gln414Pro | |
| NM_173076.2:c.2195A>C | NP_775099.2:p.Gln732Pro | |
| NR_103740.1:n.2439A>C | ||
| XM_011510951.1:c.2195A>C | XP_011509253.1:p.Gln732Pro | |
| XM_011510952.1:c.2195A>C | XP_011509254.1:p.Gln732Pro | |
| XM_011510951.2:c.2195A>C | XP_011509253.1:p.Gln732Pro | |
| NM_173076.3:c.2195A>C MANE Select | NP_775099.2:p.Gln732Pro | |
| NR_103740.2:n.2637A>C | ||
| NM_015657.4:c.1241A>C | NP_056472.2:p.Gln414Pro |