Linked Data
ClinVar Variation Id:
282983
dbSNP Id:
rs145698301
ExAC:
6:70964697 C / T
gnomAD v2:
6-70964697-C-T
gnomAD v3:
6-70254994-C-T
gnomAD v4:
6-70254994-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70254994C>T , CM000668.2:g.70254994C>T | GRCh38 |
| NC_000006.11:g.70964697C>T , CM000668.1:g.70964697C>T | GRCh37 |
| NC_000006.10:g.71021418C>T | NCBI36 |
| NG_011654.1:g.53090G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683980.2:c.905G>A | ENSP00000506990.1:p.Arg302His | |
| ENST00000360859.12:n.320G>A | ||
| ENST00000493682.7:n.1628G>A | ||
| ENST00000683602.1:n.2371G>A | ||
| ENST00000683758.1:c.905G>A | ENSP00000508147.1:p.Arg302His | |
| ENST00000683980.1:c.905G>A | ENSP00000506990.1:p.Arg302His | |
| ENST00000684176.1:n.976G>A | ||
| ENST00000320755.12:c.905G>A | ENSP00000315252.7:p.Arg302His | |
| ENST00000357250.11:c.1634G>A MANE Select | ENSP00000349790.6:p.Arg545His | |
| ENST00000360859.11:n.320G>A | ||
| ENST00000644493.1:c.*671G>A | ENSP00000495638.1:n.*671G>A | |
| ENST00000320755.11:c.905G>A | ENSP00000315252.7:p.Arg302His | |
| ENST00000357250.10:c.1634G>A | ENSP00000349790.6:p.Arg545His | |
| ENST00000360859.10:n.280G>A | ||
| ENST00000489611.5:n.726G>A | ||
| ENST00000493682.6:n.607G>A | ||
| NM_001851.4:c.1634G>A | NP_001842.3:p.Arg545His | |
| NM_078485.3:c.905G>A | NP_511040.2:p.Arg302His | |
| XM_011535429.1:c.1634G>A | XP_011533731.1:p.Arg545His | |
| XM_011535430.1:c.905G>A | XP_011533732.1:p.Arg302His | |
| XM_011535431.1:c.296G>A | XP_011533733.1:p.Arg99His | |
| XM_011535429.3:c.1634G>A | XP_011533731.1:p.Arg545His | |
| XM_011535430.3:c.905G>A | XP_011533732.1:p.Arg302His | |
| XM_017010246.2:c.1085G>A | XP_016865735.1:p.Arg362His | |
| XM_017010247.2:c.353G>A | XP_016865736.1:p.Arg118His | |
| NM_001377289.1:c.905G>A | NP_001364218.1:p.Arg302His | |
| NM_001377290.1:c.905G>A | NP_001364219.1:p.Arg302His | |
| NM_001851.5:c.1634G>A | NP_001842.3:p.Arg545His | |
| NM_078485.4:c.905G>A | NP_511040.2:p.Arg302His | |
| NR_165185.1:n.1155G>A | ||
| NM_001851.6:c.1634G>A MANE Select | NP_001842.3:p.Arg545His |