Linked Data
ClinVar Variation Id:
212734
dbSNP Id:
rs146036912
ExAC:
4:108948883 T / C
gnomAD v2:
4-108948883-T-C
gnomAD v3:
4-108027727-T-C
gnomAD v4:
4-108027727-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108027727T>C , CM000666.2:g.108027727T>C | GRCh38 |
| NC_000004.11:g.108948883T>C , CM000666.1:g.108948883T>C | GRCh37 |
| NC_000004.10:g.109168332T>C | NCBI36 |
| NG_008156.2:g.42944T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507260.3:n.4886T>C | ||
| ENST00000510728.6:n.1664T>C | ||
| ENST00000514776.3:n.109T>C | ||
| ENST00000515462.7:n.1863T>C | ||
| ENST00000626637.2:c.688T>C | ENSP00000486771.1:p.Tyr230His | |
| ENST00000638648.2:c.688T>C | ENSP00000507949.1:p.Tyr230His | |
| ENST00000640201.2:n.762T>C | ||
| ENST00000640752.2:n.4886T>C | ||
| ENST00000682067.1:c.509T>C | ||
| ENST00000682086.1:n.745T>C | ||
| ENST00000682373.1:c.335T>C | ||
| ENST00000684696.1:c.637-212T>C | ENSP00000507675.1:n.637-212T>C | |
| ENST00000309522.8:c.676T>C MANE Select | ENSP00000312288.4:p.Tyr226His | |
| ENST00000403312.6:c.676T>C | ENSP00000385638.3:p.Tyr226His | |
| ENST00000505878.4:c.853T>C | ENSP00000425952.2:p.Tyr285His | |
| ENST00000514776.2:n.109T>C | ||
| ENST00000515462.6:n.1863T>C | ||
| ENST00000638559.1:c.534T>C | ||
| ENST00000638621.1:c.262T>C | ENSP00000491581.1:p.Tyr88His | |
| ENST00000638648.1:n.827T>C | ||
| ENST00000639146.1:c.676T>C | ENSP00000492345.1:p.Tyr226His | |
| ENST00000639335.1:c.*111T>C | ENSP00000491310.1:n.*111T>C | |
| ENST00000639698.1:c.516+4164T>C | ENSP00000492420.1:n.516+4164T>C | |
| ENST00000639784.1:c.373+4164T>C | ||
| ENST00000640048.1:c.648T>C | ENSP00000492009.1:n.648T>C | |
| ENST00000640060.1:c.*771T>C | ENSP00000492734.1:n.*771T>C | |
| ENST00000640201.1:n.631T>C | ||
| ENST00000640752.1:n.4879T>C | ||
| ENST00000309522.7:c.676T>C | ENSP00000312288.3:p.Tyr226His | |
| ENST00000403312.5:c.853T>C | ENSP00000385638.2:p.Tyr285His | |
| ENST00000505878.3:c.688T>C | ENSP00000425952.1:p.Tyr230His | |
| ENST00000507260.1:n.376T>C | ||
| ENST00000510728.5:n.216T>C | ||
| ENST00000515462.5:n.13T>C | ||
| ENST00000603302.5:c.676T>C | ENSP00000474560.1:p.Tyr226His | |
| ENST00000626637.1:c.688T>C | ENSP00000486771.1:p.Tyr230His | |
| NM_001184705.2:c.676T>C | NP_001171634.2:p.Tyr226His | |
| NM_005327.4:c.676T>C | NP_005318.3:p.Tyr226His | |
| XM_005262972.1:c.688T>C | XP_005263029.1:p.Tyr230His | |
| XR_938726.1:n.825T>C | ||
| NM_001331027.1:c.688T>C | NP_001317956.1:p.Tyr230His | |
| XR_001741214.2:n.770T>C | ||
| XR_002959727.1:n.770T>C | ||
| NM_001184705.3:c.676T>C | NP_001171634.2:p.Tyr226His | |
| NM_005327.7:c.676T>C MANE Select | NP_005318.6:p.Tyr226His | |
| NM_001184705.4:c.676T>C | NP_001171634.3:p.Tyr226His | |
| NM_001331027.2:c.688T>C | NP_001317956.2:p.Tyr230His |