Linked Data
dbSNP Id:
rs776046191
ExAC:
1:25627990 A / G
gnomAD v2:
1-25627990-A-G
gnomAD v3:
1-25301499-A-G
gnomAD v4:
1-25301499-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25301499A>G , CM000663.2:g.25301499A>G | GRCh38 |
| NC_000001.10:g.25627990A>G , CM000663.1:g.25627990A>G | GRCh37 |
| NC_000001.9:g.25500577A>G | NCBI36 |
| NG_007494.1:g.34010A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328664.9:c.635-21A>G (RHD) MANE Select | ENSP00000331871.4:n.635-21A>G | |
| ENST00000648012.1:c.635-21A>G (RHD) | ENSP00000498055.1:n.635-21A>G | |
| ENST00000328664.8:c.635-21A>G (RHD) | ENSP00000331871.4:n.635-21A>G | |
| ENST00000342055.9:c.635-21A>G (RHD) | ENSP00000339577.5:n.635-21A>G | |
| ENST00000357542.8:c.635-21A>G (RHD) | ENSP00000350150.4:n.635-21A>G | |
| ENST00000417538.6:c.635-21A>G (RHD) | ENSP00000396420.2:n.635-21A>G | |
| ENST00000423253.1:n.635-21A>G (RHD) | ||
| ENST00000423810.6:c.635-21A>G (RHD) | ENSP00000399640.2:n.635-21A>G | |
| ENST00000454452.6:c.635-21A>G (RHD) | ENSP00000413849.2:n.635-21A>G | |
| ENST00000473314.6:c.-67+35541T>C (RSRP1) | ENSP00000457582.1:n.-67+35541T>C | |
| ENST00000561867.1:c.-67+36479T>C (RSRP1) | ENSP00000456995.1:n.-67+36479T>C | |
| ENST00000564398.5:n.790-21A>G (RHD) | ||
| ENST00000568195.5:c.635-21A>G (RHD) | ENSP00000456966.1:n.635-21A>G | |
| ENST00000568996.1:c.-67+36570T>C (RSRP1) | ENSP00000458042.1:n.-67+36570T>C | |
| ENST00000615607.1:c.635-21A>G (RHD) | ENSP00000480925.1:n.635-21A>G | |
| ENST00000622561.4:c.635-21A>G (RHD) | ENSP00000478087.1:n.635-21A>G | |
| NM_001127691.2:c.635-21A>G (RHD) | NP_001121163.1:n.635-21A>G | |
| NM_001282867.1:c.137-21A>G (RHD) | NP_001269796.1:n.137-21A>G | |
| NM_001282868.1:c.635-21A>G (RHD) | NP_001269797.1:n.635-21A>G | |
| NM_001282869.1:c.635-21A>G (RHD) | NP_001269798.1:n.635-21A>G | |
| NM_001282870.1:c.635-21A>G (RHD) | NP_001269799.1:n.635-21A>G | |
| NM_001282871.1:c.635-21A>G (RHD) | NP_001269800.1:n.635-21A>G | |
| NM_001282872.1:c.635-21A>G (RHD) | NP_001269801.1:n.635-21A>G | |
| NM_016124.4:c.635-21A>G (RHD) | NP_057208.2:n.635-21A>G | |
| XM_011541892.1:c.635-21A>G (RHD) | XP_011540194.1:n.635-21A>G | |
| XR_946734.1:n.790-21A>G (RHD) | ||
| XR_946735.1:n.790-21A>G (RHD) | ||
| XR_946736.1:n.790-21A>G (RHD) | ||
| XR_946737.1:n.790-21A>G (RHD) | ||
| XR_947098.1:n.144-9731T>C | ||
| NM_001321772.1:c.-67+35541T>C (RSRP1) | NP_001308701.1:n.-67+35541T>C | |
| NR_135787.1:n.1215+35541T>C (RSRP1) | ||
| NR_135788.1:n.277+36479T>C (RSRP1) | ||
| NR_135789.1:n.1215+35541T>C (RSRP1) | ||
| XM_017002015.1:c.635-21A>G (RHD) | XP_016857504.1:n.635-21A>G | |
| XR_946737.2:n.790-21A>G (RHD) | ||
| NM_001127691.3:c.635-21A>G (RHD) | NP_001121163.1:n.635-21A>G | |
| NM_001282869.2:c.635-21A>G (RHD) | NP_001269798.1:n.635-21A>G | |
| NM_001282871.2:c.635-21A>G (RHD) | NP_001269800.1:n.635-21A>G | |
| NM_001321772.2:c.-67+35541T>C (RSRP1) | NP_001308701.1:n.-67+35541T>C | |
| NM_016124.5:c.-4294966622-21A>G | ||
| NR_135787.2:n.1215+35541T>C (RSRP1) | ||
| NR_135788.2:n.277+36479T>C (RSRP1) | ||
| NR_135789.2:n.1215+35541T>C (RSRP1) | ||
| NM_016124.6:c.635-21A>G (RHD) MANE Select | NP_057208.3:n.635-21A>G |