dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00121455 (EAS)
Exomes Max Group AF
0.00137123 (EAS)
Revel Score:
ENST00000328664 (MANE Select)
0.150
ENST00000419831
0.150
ENST00000454452
0.150
ENST00000342055
0.150
ENST00000357542
0.150
ENST00000417538
0.150
ENST00000423810
0.150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25303452A>C , CM000663.2:g.25303452A>C | GRCh38 |
| NC_000001.10:g.25629943A>C , CM000663.1:g.25629943A>C | GRCh37 |
| NC_000001.9:g.25502530A>C | NCBI36 |
| NG_007494.1:g.35963A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328664.9:c.932A>C (RHD) MANE Select | ENSP00000331871.4:p.Tyr311Ser | |
| ENST00000648012.1:c.932A>C (RHD) | ENSP00000498055.1:p.Tyr311Ser | |
| ENST00000328664.8:c.932A>C (RHD) | ENSP00000331871.4:p.Tyr311Ser | |
| ENST00000342055.9:c.932A>C (RHD) | ENSP00000339577.5:p.Tyr311Ser | |
| ENST00000357542.8:c.932A>C (RHD) | ENSP00000350150.4:p.Tyr311Ser | |
| ENST00000417538.6:c.932A>C (RHD) | ENSP00000396420.2:p.Tyr311Ser | |
| ENST00000423253.1:n.932A>C (RHD) | ||
| ENST00000423810.6:c.932A>C (RHD) | ENSP00000399640.2:p.Tyr311Ser | |
| ENST00000454452.6:c.932A>C (RHD) | ENSP00000413849.2:p.Tyr311Ser | |
| ENST00000473314.6:c.-67+33588T>G (RSRP1) | ENSP00000457582.1:n.-67+33588T>G | |
| ENST00000561867.1:c.-67+34526T>G (RSRP1) | ENSP00000456995.1:n.-67+34526T>G | |
| ENST00000564398.5:n.1087A>C (RHD) | ||
| ENST00000568195.5:c.932A>C (RHD) | ENSP00000456966.1:p.Tyr311Ser | |
| ENST00000568996.1:c.-67+34617T>G (RSRP1) | ENSP00000458042.1:n.-67+34617T>G | |
| ENST00000615607.1:c.931A>C (RHD) | ENSP00000480925.1:n.931A>C | |
| ENST00000622561.4:c.932A>C (RHD) | ENSP00000478087.1:p.Tyr311Ser | |
| NM_001127691.2:c.932A>C (RHD) | NP_001121163.1:p.Tyr311Ser | |
| NM_001282867.1:c.434A>C (RHD) | NP_001269796.1:p.Tyr145Ser | |
| NM_001282868.1:c.932A>C (RHD) | NP_001269797.1:p.Tyr311Ser | |
| NM_001282869.1:c.932A>C (RHD) | NP_001269798.1:p.Tyr311Ser | |
| NM_001282870.1:c.932A>C (RHD) | NP_001269799.1:p.Tyr311Ser | |
| NM_001282871.1:c.932A>C (RHD) | NP_001269800.1:p.Tyr311Ser | |
| NM_001282872.1:c.932A>C (RHD) | NP_001269801.1:p.Tyr311Ser | |
| NM_016124.4:c.932A>C (RHD) | NP_057208.2:p.Tyr311Ser | |
| XM_011541892.1:c.932A>C (RHD) | XP_011540194.1:p.Tyr311Ser | |
| XR_241226.2:n.2606T>G | ||
| XR_946734.1:n.1087A>C (RHD) | ||
| XR_946735.1:n.1087A>C (RHD) | ||
| XR_946736.1:n.1087A>C (RHD) | ||
| XR_946737.1:n.1087A>C (RHD) | ||
| XR_947093.1:n.2552T>G | ||
| XR_947098.1:n.144-11684T>G | ||
| NM_001321772.1:c.-67+33588T>G (RSRP1) | NP_001308701.1:n.-67+33588T>G | |
| NR_135787.1:n.1215+33588T>G (RSRP1) | ||
| NR_135788.1:n.277+34526T>G (RSRP1) | ||
| NR_135789.1:n.1215+33588T>G (RSRP1) | ||
| NR_135790.1:n.2794T>G (RSRP1) | ||
| NR_135791.1:n.2973T>G (RSRP1) | ||
| NR_135792.1:n.2585T>G (RSRP1) | ||
| NR_135793.1:n.2639T>G (RSRP1) | ||
| XM_017002015.1:c.932A>C (RHD) | XP_016857504.1:p.Tyr311Ser | |
| XR_946737.2:n.1087A>C (RHD) | ||
| NM_001127691.3:c.932A>C (RHD) | NP_001121163.1:p.Tyr311Ser | |
| NM_001282869.2:c.932A>C (RHD) | NP_001269798.1:p.Tyr311Ser | |
| NM_001282871.2:c.932A>C (RHD) | NP_001269800.1:p.Tyr311Ser | |
| NM_001321772.2:c.-67+33588T>G (RSRP1) | NP_001308701.1:n.-67+33588T>G | |
| NM_016124.5:c.-4294966325A>C | ||
| NR_135787.2:n.1215+33588T>G (RSRP1) | ||
| NR_135788.2:n.277+34526T>G (RSRP1) | ||
| NR_135789.2:n.1215+33588T>G (RSRP1) | ||
| NM_016124.6:c.932A>C (RHD) MANE Select | NP_057208.3:p.Tyr311Ser |