Linked Data
dbSNP Id:
rs371752157
ExAC:
2:113514301 T / G
gnomAD v2:
2-113514301-T-G
gnomAD v3:
2-112756724-T-G
gnomAD v4:
2-112756724-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756724T>G , CM000664.2:g.112756724T>G | GRCh38 |
| NC_000002.11:g.113514301T>G , CM000664.1:g.113514301T>G | GRCh37 |
| NC_000002.10:g.113230772T>G | NCBI36 |
| NG_041820.1:g.12954A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.647A>C MANE Select | ENSP00000305204.6:p.Gln216Pro | |
| ENST00000302450.10:c.647A>C | ENSP00000305204.6:p.Gln216Pro | |
| ENST00000435431.5:c.478+169A>C | ENSP00000414834.1:n.478+169A>C | |
| NM_001304361.1:c.152A>C | NP_001291290.1:p.Gln51Pro | |
| NM_152515.4:c.647A>C | NP_689728.3:p.Gln216Pro | |
| NR_130712.1:n.557+169A>C | ||
| XM_011510666.1:c.152A>C | XP_011508968.1:p.Gln51Pro | |
| XM_011510666.2:c.152A>C | XP_011508968.1:p.Gln51Pro | |
| NM_152515.5:c.647A>C MANE Select | NP_689728.3:p.Gln216Pro | |
| NM_001304361.2:c.152A>C | NP_001291290.1:p.Gln51Pro | |
| NR_130712.2:n.489+169A>C |