Linked Data
ClinVar Variation Id:
2702827
ClinVar RCV Id:
RCV003528842
dbSNP Id:
rs1249553881
gnomAD v3:
17-46032196-A-G
gnomAD v4:
17-46032196-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46032196A>G , CM000679.2:g.46032196A>G | GRCh38 |
| NC_000017.10:g.44109562A>G , CM000679.1:g.44109562A>G | GRCh37 |
| NC_000017.9:g.41465409A>G | NCBI36 |
| NG_032784.1:g.198179T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432791.7:c.2941T>C MANE Select | ENSP00000387393.3:p.Ser981Pro | |
| ENST00000572904.6:c.2941T>C | ENSP00000461484.1:p.Ser981Pro | |
| ENST00000574590.6:c.2938T>C | ENSP00000461812.2:p.Ser980Pro | |
| ENST00000575318.6:c.2749T>C | ENSP00000461299.1:p.Ser917Pro | |
| ENST00000638275.1:c.2749T>C | ENSP00000492576.1:p.Ser917Pro | |
| ENST00000638551.1:n.889T>C | ||
| ENST00000639467.1:c.598T>C | ENSP00000492741.1:p.Ser200Pro | |
| ENST00000639805.1:n.358T>C | ||
| ENST00000648792.1:c.2838-29T>C | ENSP00000497628.1:n.2838-29T>C | |
| ENST00000262419.10:c.2941T>C | ENSP00000262419.6:p.Ser981Pro | |
| ENST00000432791.5:c.2938T>C | ENSP00000387393.2:p.Ser980Pro | |
| ENST00000572218.5:n.7158T>C | ||
| ENST00000572904.5:c.2941T>C | ENSP00000461484.1:p.Ser981Pro | |
| ENST00000573682.1:n.327T>C | ||
| ENST00000574590.5:c.2941T>C | ENSP00000461812.1:p.Ser981Pro | |
| ENST00000574963.1:n.371T>C | ||
| ENST00000575318.5:c.2749T>C | ENSP00000461299.1:p.Ser917Pro | |
| ENST00000576870.5:n.913T>C | ||
| NM_001193465.1:c.2938T>C | NP_001180394.1:p.Ser980Pro | |
| NM_001193466.1:c.2941T>C | NP_001180395.1:p.Ser981Pro | |
| NM_015443.3:c.2941T>C | NP_056258.1:p.Ser981Pro | |
| XM_006721823.1:c.2941T>C | XP_006721886.1:p.Ser981Pro | |
| XM_006721824.2:c.2941T>C | XP_006721887.1:p.Ser981Pro | |
| XM_011524628.1:c.2938T>C | XP_011522930.1:p.Ser980Pro | |
| XM_011524629.1:c.2839T>C | XP_011522931.1:p.Ser947Pro | |
| XM_011524630.1:c.2752T>C | XP_011522932.1:p.Ser918Pro | |
| XM_011524631.1:c.2749T>C | XP_011522933.1:p.Ser917Pro | |
| XM_011524632.1:c.1711T>C | XP_011522934.1:p.Ser571Pro | |
| XM_006721823.2:c.2941T>C | XP_006721886.1:p.Ser981Pro | |
| XM_006721824.4:c.2941T>C | XP_006721887.1:p.Ser981Pro | |
| XM_011524628.3:c.2938T>C | XP_011522930.1:p.Ser980Pro | |
| XM_011524629.3:c.2839T>C | XP_011522931.1:p.Ser947Pro | |
| XM_011524630.3:c.2752T>C | XP_011522932.1:p.Ser918Pro | |
| XM_011524631.3:c.2749T>C | XP_011522933.1:p.Ser917Pro | |
| XM_011524632.3:c.1711T>C | XP_011522934.1:p.Ser571Pro | |
| XM_017024488.2:c.2749T>C | XP_016879977.1:p.Ser917Pro | |
| NM_001193466.2:c.2941T>C | NP_001180395.1:p.Ser981Pro | |
| NM_015443.4:c.2941T>C MANE Select | NP_056258.1:p.Ser981Pro | |
| NM_001193465.2:c.2938T>C | NP_001180394.1:p.Ser980Pro | |
| NM_001379198.1:c.2941T>C | NP_001366127.1:p.Ser981Pro |