Linked Data
ClinVar Variation Id:
211127
ClinVar RCV Id:
RCV000194877
RCV000757347
RCV000764522
RCV001086439
RCV001143929
RCV000664100
RCV003907686
dbSNP Id:
rs1051519
ExAC:
4:108940732 G / T
gnomAD v2:
4-108940732-G-T
gnomAD v3:
4-108019576-G-T
gnomAD v4:
4-108019576-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.108019576G>T , CM000666.2:g.108019576G>T | GRCh38 |
| NC_000004.11:g.108940732G>T , CM000666.1:g.108940732G>T | GRCh37 |
| NC_000004.10:g.109160181G>T | NCBI36 |
| NG_008156.2:g.34793G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507260.3:n.542G>T | ||
| ENST00000626637.2:c.468G>T | ENSP00000486771.1:p.Gln156His | |
| ENST00000638648.2:c.468G>T | ENSP00000507949.1:p.Gln156His | |
| ENST00000640201.2:n.542G>T | ||
| ENST00000640752.2:n.542G>T | ||
| ENST00000682067.1:c.380-3898G>T | ||
| ENST00000682197.1:n.540G>T | ||
| ENST00000682373.1:c.206-3898G>T | ||
| ENST00000684696.1:c.456G>T | ENSP00000507675.1:p.Gln152His | |
| ENST00000309522.8:c.456G>T MANE Select | ENSP00000312288.4:p.Gln152His | |
| ENST00000403312.6:c.456G>T | ENSP00000385638.3:p.Gln152His | |
| ENST00000505878.4:c.633G>T | ENSP00000425952.2:p.Gln211His | |
| ENST00000507260.2:n.499G>T | ||
| ENST00000638559.1:c.314G>T | ||
| ENST00000638621.1:c.133-3898G>T | ENSP00000491581.1:n.133-3898G>T | |
| ENST00000638648.1:n.607G>T | ||
| ENST00000639146.1:c.456G>T | ENSP00000492345.1:p.Gln152His | |
| ENST00000639335.1:c.420-3898G>T | ENSP00000491310.1:n.420-3898G>T | |
| ENST00000639698.1:c.336G>T | ENSP00000492420.1:p.Gln112His | |
| ENST00000639784.1:c.284-3898G>T | ||
| ENST00000640048.1:c.294G>T | ENSP00000492009.1:p.Gln98His | |
| ENST00000640060.1:c.*551G>T | ENSP00000492734.1:n.*551G>T | |
| ENST00000640201.1:n.411G>T | ||
| ENST00000640586.1:c.745G>T | ||
| ENST00000640752.1:n.535G>T | ||
| ENST00000309522.7:c.456G>T | ENSP00000312288.3:p.Gln152His | |
| ENST00000403312.5:c.633G>T | ENSP00000385638.2:p.Gln211His | |
| ENST00000505878.3:c.468G>T | ENSP00000425952.1:p.Gln156His | |
| ENST00000507260.1:n.156G>T | ||
| ENST00000603302.5:c.456G>T | ENSP00000474560.1:p.Gln152His | |
| ENST00000626637.1:c.468G>T | ENSP00000486771.1:p.Gln156His | |
| NM_001184705.2:c.456G>T | NP_001171634.2:p.Gln152His | |
| NM_005327.4:c.456G>T | NP_005318.3:p.Gln152His | |
| XM_005262972.1:c.468G>T | XP_005263029.1:p.Gln156His | |
| XR_938726.1:n.605G>T | ||
| NM_001331027.1:c.468G>T | NP_001317956.1:p.Gln156His | |
| XR_001741214.2:n.550G>T | ||
| XR_002959727.1:n.550G>T | ||
| NM_001184705.3:c.456G>T | NP_001171634.2:p.Gln152His | |
| NM_005327.7:c.456G>T MANE Select | NP_005318.6:p.Gln152His | |
| NM_001184705.4:c.456G>T | NP_001171634.3:p.Gln152His | |
| NM_001331027.2:c.468G>T | NP_001317956.2:p.Gln156His |