Linked Data
ClinVar Variation Id:
307132
ClinVar RCV Id:
RCV000281928
RCV000297089
RCV000336787
RCV000351981
RCV000396047
RCV000396046
RCV000596388
dbSNP Id:
rs377257364
ExAC:
12:110234451 C / T
gnomAD v2:
12-110234451-C-T
gnomAD v4:
12-109796646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109796646C>T , CM000674.2:g.109796646C>T | GRCh38 |
| NC_000012.11:g.110234451C>T , CM000674.1:g.110234451C>T | GRCh37 |
| NC_000012.10:g.108718834C>T | NCBI36 |
| NG_017090.1:g.41762G>A , LRG_372:g.41762G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1211G>A MANE Select | ENSP00000261740.2:p.Arg404His | |
| ENST00000418703.7:c.1211G>A | ENSP00000406191.2:p.Arg404His | |
| ENST00000674908.1:c.*298G>A | ENSP00000502012.1:n.*298G>A | |
| ENST00000675533.1:n.1242G>A | ||
| ENST00000675670.1:c.1211G>A | ENSP00000502135.1:p.Arg404His | |
| ENST00000676376.1:n.1242G>A | ||
| ENST00000261740.6:c.1211G>A | ENSP00000261740.2:p.Arg404His | |
| ENST00000418703.6:c.1211G>A | ENSP00000406191.2:p.Arg404His | |
| ENST00000536838.1:c.1109G>A | ENSP00000444336.1:p.Arg370His | |
| ENST00000537083.5:c.1152+1968G>A | ENSP00000442738.1:n.1152+1968G>A | |
| ENST00000538125.5:c.1211G>A | ENSP00000437449.1:p.Arg404His | |
| ENST00000541794.5:c.1070G>A | ENSP00000442167.1:p.Arg357His | |
| ENST00000544971.5:c.1011+1968G>A | ENSP00000443611.1:n.1011+1968G>A | |
| NM_001177428.1:c.1070G>A | NP_001170899.1:p.Arg357His | |
| NM_001177431.1:c.1109G>A | NP_001170902.1:p.Arg370His | |
| NM_001177433.1:c.1011+1968G>A | NP_001170904.1:n.1011+1968G>A | |
| NM_021625.4:c.1211G>A , LRG_372t1:c.1211G>A | NP_067638.3:p.Arg404His | |
| NM_147204.2:c.1152+1968G>A | NP_671737.1:n.1152+1968G>A | |
| XM_005253918.1:c.1211G>A | XP_005253975.1:p.Arg404His | |
| XM_011538630.1:c.1211G>A | XP_011536932.1:p.Arg404His | |
| XM_011538631.1:c.1070G>A | XP_011536933.1:p.Arg357His | |
| XM_011538632.1:c.1152+1968G>A | XP_011536934.1:n.1152+1968G>A | |
| XM_011538633.1:c.1011+1968G>A | XP_011536935.1:n.1011+1968G>A | |
| XM_011538634.1:c.1211G>A | XP_011536936.1:p.Arg404His | |
| XM_011538635.1:c.1364G>A | XP_011536937.1:p.Arg455His | |
| XM_011538636.1:c.1364G>A | XP_011536938.1:p.Arg455His | |
| XM_011538630.2:c.1364G>A | XP_011536932.2:p.Arg455His | |
| XM_011538631.2:c.1223G>A | XP_011536933.2:p.Arg408His | |
| XM_011538632.2:c.1305+1968G>A | XP_011536934.2:n.1305+1968G>A | |
| XM_011538633.2:c.1164+1968G>A | XP_011536935.2:n.1164+1968G>A | |
| XM_011538634.2:c.1364G>A | XP_011536936.2:p.Arg455His | |
| XM_011538635.2:c.1364G>A | XP_011536937.1:p.Arg455His | |
| XM_017019774.1:c.1211G>A | XP_016875263.1:p.Arg404His | |
| NM_021625.5:c.1211G>A MANE Select | NP_067638.3:p.Arg404His |