Linked Data
dbSNP Id:
rs1053360
ExAC:
1:25628088 G / A
gnomAD v2:
1-25628088-G-A
gnomAD v3:
1-25301597-G-A
gnomAD v4:
1-25301597-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25301597G>A , CM000663.2:g.25301597G>A | GRCh38 |
| NC_000001.10:g.25628088G>A , CM000663.1:g.25628088G>A | GRCh37 |
| NC_000001.9:g.25500675G>A | NCBI36 |
| NG_007494.1:g.34108G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328664.9:c.712G>A (RHD) MANE Select | ENSP00000331871.4:p.Val238Met | |
| ENST00000648012.1:c.712G>A (RHD) | ENSP00000498055.1:p.Val238Met | |
| ENST00000328664.8:c.712G>A (RHD) | ENSP00000331871.4:p.Val238Met | |
| ENST00000342055.9:c.712G>A (RHD) | ENSP00000339577.5:p.Val238Met | |
| ENST00000357542.8:c.712G>A (RHD) | ENSP00000350150.4:p.Val238Met | |
| ENST00000417538.6:c.712G>A (RHD) | ENSP00000396420.2:p.Val238Met | |
| ENST00000423253.1:n.712G>A (RHD) | ||
| ENST00000423810.6:c.712G>A (RHD) | ENSP00000399640.2:p.Val238Met | |
| ENST00000454452.6:c.712G>A (RHD) | ENSP00000413849.2:p.Val238Met | |
| ENST00000473314.6:c.-67+35443C>T (RSRP1) | ENSP00000457582.1:n.-67+35443C>T | |
| ENST00000561867.1:c.-67+36381C>T (RSRP1) | ENSP00000456995.1:n.-67+36381C>T | |
| ENST00000564398.5:n.867G>A (RHD) | ||
| ENST00000568195.5:c.712G>A (RHD) | ENSP00000456966.1:p.Val238Met | |
| ENST00000568996.1:c.-67+36472C>T (RSRP1) | ENSP00000458042.1:n.-67+36472C>T | |
| ENST00000615607.1:c.712G>A (RHD) | ENSP00000480925.1:p.Val238Met | |
| ENST00000622561.4:c.712G>A (RHD) | ENSP00000478087.1:p.Val238Met | |
| NM_001127691.2:c.712G>A (RHD) | NP_001121163.1:p.Val238Met | |
| NM_001282867.1:c.214G>A (RHD) | NP_001269796.1:p.Val72Met | |
| NM_001282868.1:c.712G>A (RHD) | NP_001269797.1:p.Val238Met | |
| NM_001282869.1:c.712G>A (RHD) | NP_001269798.1:p.Val238Met | |
| NM_001282870.1:c.712G>A (RHD) | NP_001269799.1:p.Val238Met | |
| NM_001282871.1:c.712G>A (RHD) | NP_001269800.1:p.Val238Met | |
| NM_001282872.1:c.712G>A (RHD) | NP_001269801.1:p.Val238Met | |
| NM_016124.4:c.712G>A (RHD) | NP_057208.2:p.Val238Met | |
| XM_011541892.1:c.712G>A (RHD) | XP_011540194.1:p.Val238Met | |
| XR_946734.1:n.867G>A (RHD) | ||
| XR_946735.1:n.867G>A (RHD) | ||
| XR_946736.1:n.867G>A (RHD) | ||
| XR_946737.1:n.867G>A (RHD) | ||
| XR_947098.1:n.144-9829C>T | ||
| NM_001321772.1:c.-67+35443C>T (RSRP1) | NP_001308701.1:n.-67+35443C>T | |
| NR_135787.1:n.1215+35443C>T (RSRP1) | ||
| NR_135788.1:n.277+36381C>T (RSRP1) | ||
| NR_135789.1:n.1215+35443C>T (RSRP1) | ||
| XM_017002015.1:c.712G>A (RHD) | XP_016857504.1:p.Val238Met | |
| XR_946737.2:n.867G>A (RHD) | ||
| NM_001127691.3:c.712G>A (RHD) | NP_001121163.1:p.Val238Met | |
| NM_001282869.2:c.712G>A (RHD) | NP_001269798.1:p.Val238Met | |
| NM_001282871.2:c.712G>A (RHD) | NP_001269800.1:p.Val238Met | |
| NM_001321772.2:c.-67+35443C>T (RSRP1) | NP_001308701.1:n.-67+35443C>T | |
| NM_016124.5:c.-4294966545G>A | ||
| NR_135787.2:n.1215+35443C>T (RSRP1) | ||
| NR_135788.2:n.277+36381C>T (RSRP1) | ||
| NR_135789.2:n.1215+35443C>T (RSRP1) | ||
| NM_016124.6:c.712G>A (RHD) MANE Select | NP_057208.3:p.Val238Met |