Linked Data
dbSNP Id:
rs2273073
gnomAD v2:
20-6750882-T-C
gnomAD v3:
20-6770235-T-C
gnomAD v4:
20-6770235-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6770235T>C , CM000682.2:g.6770235T>C | GRCh38 |
| NC_000020.10:g.6750882T>C , CM000682.1:g.6750882T>C | GRCh37 |
| NC_000020.9:g.6698882T>C | NCBI36 |
| NG_023233.1:g.7138T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378827.5:c.109T>C MANE Select | ENSP00000368104.3:p.Ser37Pro | |
| ENST00000378827.4:c.109T>C | ENSP00000368104.3:p.Ser37Pro | |
| NM_001200.2:c.109T>C | NP_001191.1:p.Ser37Pro | |
| XM_011529323.1:c.-123+1360T>C | XP_011527625.1:n.-123+1360T>C | |
| NM_001200.3:c.109T>C | NP_001191.1:p.Ser37Pro | |
| NM_001200.4:c.109T>C MANE Select | NP_001191.1:p.Ser37Pro |