Linked Data
ClinVar Variation Id:
157588
dbSNP Id:
rs1051266
ExAC:
21:46957794 T / C
gnomAD v2:
21-46957794-T-C
gnomAD v3:
21-45537880-T-C
gnomAD v4:
21-45537880-T-C
PubMed:
PMID:25227144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45537880T>C , CM000683.2:g.45537880T>C | GRCh38 |
| NC_000021.8:g.46957794T>C , CM000683.1:g.46957794T>C | GRCh37 |
| NC_000021.7:g.45782222T>C | NCBI36 |
| NG_028278.1:g.9592A>G | |
| NG_028278.2:g.30264A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311124.9:c.80A>G MANE Select | ENSP00000308895.4:p.His27Arg | |
| ENST00000650808.1:c.80A>G | ENSP00000498221.1:p.His27Arg | |
| ENST00000311124.8:c.80A>G | ENSP00000308895.4:p.His27Arg | |
| ENST00000380010.8:c.80A>G | ENSP00000369347.4:p.His27Arg | |
| ENST00000427839.5:c.80A>G | ENSP00000401850.1:p.His27Arg | |
| ENST00000443742.1:c.80A>G | ENSP00000411345.1:p.His27Arg | |
| ENST00000486303.1:n.54A>G | ||
| ENST00000528477.1:c.80A>G | ENSP00000435780.1:p.His27Arg | |
| ENST00000567670.5:c.80A>G | ENSP00000457278.1:p.His27Arg | |
| NM_001205206.1:c.80A>G | NP_001192135.1:p.His27Arg | |
| NM_194255.2:c.80A>G | NP_919231.1:p.His27Arg | |
| XM_005261164.2:c.-279A>G | XP_005261221.1:n.-279A>G | |
| XM_011529696.1:c.371A>G | XP_011527998.1:p.His124Arg | |
| XM_011529697.1:c.371A>G | XP_011527999.1:p.His124Arg | |
| XM_011529698.1:c.146A>G | XP_011528000.1:p.His49Arg | |
| XM_011529700.1:c.80A>G | XP_011528002.1:p.His27Arg | |
| XM_011529701.1:c.80A>G | XP_011528003.1:p.His27Arg | |
| XM_011529702.1:c.80A>G | XP_011528004.1:p.His27Arg | |
| XM_011529703.1:c.80A>G | XP_011528005.1:p.His27Arg | |
| XM_011529704.1:c.80A>G | XP_011528006.1:p.His27Arg | |
| XM_011529705.1:c.371A>G | XP_011528007.1:p.His124Arg | |
| XM_011529707.1:c.371A>G | XP_011528009.1:p.His124Arg | |
| XM_011529708.1:c.80A>G | XP_011528010.1:p.His27Arg | |
| XM_011529709.1:c.-279A>G | XP_011528011.1:n.-279A>G | |
| XM_011529710.1:c.-165-5732A>G | XP_011528012.1:n.-165-5732A>G | |
| NM_001205206.2:c.80A>G | NP_001192135.1:p.His27Arg | |
| NM_001352510.1:c.-279A>G | NP_001339439.1:n.-279A>G | |
| NM_001352511.1:c.80A>G | NP_001339440.1:p.His27Arg | |
| NM_001352512.1:c.80A>G | NP_001339441.1:p.His27Arg | |
| NM_194255.3:c.80A>G | NP_919231.1:p.His27Arg | |
| XM_011529696.2:c.371A>G | XP_011527998.1:p.His124Arg | |
| XM_011529698.2:c.146A>G | XP_011528000.1:p.His49Arg | |
| XM_011529700.2:c.80A>G | XP_011528002.1:p.His27Arg | |
| XM_011529701.2:c.80A>G | XP_011528003.1:p.His27Arg | |
| XM_011529702.2:c.80A>G | XP_011528004.1:p.His27Arg | |
| XM_011529703.2:c.80A>G | XP_011528005.1:p.His27Arg | |
| XM_011529709.2:c.-279A>G | XP_011528011.1:n.-279A>G | |
| XM_017028443.1:c.284A>G | XP_016883932.1:p.His95Arg | |
| XM_017028444.1:c.371A>G | XP_016883933.1:p.His124Arg | |
| XM_017028445.2:c.371A>G | XP_016883934.1:p.His124Arg | |
| NM_194255.4:c.80A>G MANE Select | NP_919231.1:p.His27Arg | |
| NM_001205206.3:c.80A>G | NP_001192135.1:p.His27Arg | |
| NM_001352510.2:c.-279A>G | NP_001339439.1:n.-279A>G | |
| NM_001352511.2:c.80A>G | NP_001339440.1:p.His27Arg | |
| NM_001352512.2:c.80A>G | NP_001339441.1:p.His27Arg | |
| NM_001205206.4:c.80A>G | NP_001192135.1:p.His27Arg | |
| NM_001352511.3:c.80A>G | NP_001339440.1:p.His27Arg |