Linked Data
ClinVar Variation Id:
935467
ClinVar RCV Id:
RCV001204064
dbSNP Id:
rs568337755
ExAC:
2:145147136 G / T
gnomAD v2:
2-145147136-G-T
gnomAD v3:
2-144389569-G-T
gnomAD v4:
2-144389569-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389569G>T , CM000664.2:g.144389569G>T | GRCh38 |
| NC_000002.11:g.145147136G>T , CM000664.1:g.145147136G>T | GRCh37 |
| NC_000002.10:g.144863606G>T | NCBI36 |
| NG_016431.1:g.135823C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3376C>A | ENSP00000508434.1:n.*3376C>A | |
| ENST00000440875.6:c.2750C>A | ENSP00000475553.3:p.Pro917His | |
| ENST00000627532.3:c.3527C>A MANE Select | ENSP00000487174.1:p.Pro1176His | |
| ENST00000636026.2:c.3415C>A | ENSP00000490776.1:p.Pro1139Thr | |
| ENST00000636179.1:n.3496C>A | ||
| ENST00000636413.1:c.3191C>A | ENSP00000490508.1:p.Pro1064His | |
| ENST00000636471.1:c.3602C>A | ENSP00000490317.1:p.Pro1201His | |
| ENST00000636732.2:c.*3244C>A | ENSP00000490175.1:n.*3244C>A | |
| ENST00000636820.1:n.3627C>A | ||
| ENST00000637045.1:c.3191C>A | ENSP00000490141.1:p.Pro1064His | |
| ENST00000637304.1:c.3191C>A | ENSP00000490872.1:p.Pro1064His | |
| ENST00000638007.1:c.3191C>A | ENSP00000490723.1:p.Pro1064His | |
| ENST00000638087.1:c.3191C>A | ENSP00000490673.1:p.Pro1064His | |
| ENST00000638128.1:c.2750C>A | ENSP00000490934.1:p.Pro917His | |
| ENST00000639389.1:c.151+6843C>A | ENSP00000492572.1:n.151+6843C>A | |
| ENST00000647488.1:c.747C>A | ENSP00000494820.1:n.747C>A | |
| ENST00000675069.1:c.1058C>A | ENSP00000502467.1:p.Pro353His | |
| ENST00000303660.8:c.3524C>A | ENSP00000302501.4:p.Pro1175His | |
| ENST00000409487.7:c.3527C>A | ENSP00000386854.2:p.Pro1176His | |
| ENST00000419938.5:c.656-687C>A | ENSP00000394777.2:n.656-687C>A | |
| ENST00000539609.7:c.3455C>A | ENSP00000443792.2:p.Pro1152His | |
| ENST00000558170.6:c.3527C>A | ENSP00000454157.1:p.Pro1176His | |
| ENST00000627532.2:c.3527C>A | ENSP00000487174.1:p.Pro1176His | |
| NM_001171653.1:c.3455C>A | NP_001165124.1:p.Pro1152His | |
| NM_014795.3:c.3527C>A | NP_055610.1:p.Pro1176His | |
| XM_006712881.2:c.3527C>A | XP_006712944.1:p.Pro1176His | |
| XM_006712882.2:c.3527C>A | XP_006712945.1:p.Pro1176His | |
| XM_011512231.1:c.3518C>A | XP_011510533.1:p.Pro1173His | |
| XM_011512232.1:c.3506C>A | XP_011510534.1:p.Pro1169His | |
| NM_014795.4:c.3527C>A MANE Select | NP_055610.1:p.Pro1176His | |
| NM_001171653.2:c.3455C>A | NP_001165124.1:p.Pro1152His |