Linked Data
dbSNP Id:
rs1377322226
gnomAD v2:
3-119133201-T-C
gnomAD v3:
3-119414354-T-C
gnomAD v4:
3-119414354-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414354T>C , CM000665.2:g.119414354T>C | GRCh38 |
| NC_000003.11:g.119133201T>C , CM000665.1:g.119133201T>C | GRCh37 |
| NC_000003.10:g.120615891T>C | NCBI36 |
| NG_007665.2:g.124982T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2425T>C MANE Select | ENSP00000264245.4:p.Ser809Pro | |
| ENST00000264245.8:c.2425T>C | ENSP00000264245.4:p.Ser809Pro | |
| NM_020754.3:c.2425T>C | NP_065805.2:p.Ser809Pro | |
| XM_005247671.3:c.2332T>C | XP_005247728.1:p.Ser778Pro | |
| XM_006713714.2:c.2365T>C | XP_006713777.1:p.Ser789Pro | |
| XM_006713714.3:c.2365T>C | XP_006713777.1:p.Ser789Pro | |
| XM_017006955.1:c.1933T>C | XP_016862444.1:p.Ser645Pro | |
| NM_020754.4:c.2425T>C MANE Select | NP_065805.2:p.Ser809Pro |