Linked Data
ClinVar Variation Id:
383246
dbSNP Id:
rs1057521565
gnomAD v2:
19-13319619-C-T
gnomAD v3:
19-13208805-C-T
gnomAD v4:
19-13208805-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13208805C>T , CM000681.2:g.13208805C>T | GRCh38 |
| NC_000019.9:g.13319619C>T , CM000681.1:g.13319619C>T | GRCh37 |
| NC_000019.8:g.13180619C>T | NCBI36 |
| NG_011569.1:g.302656G>A , LRG_7:g.302656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.6731G>A MANE Select | ENSP00000353362.5:p.Arg2244His | |
| ENST00000573710.7:c.6737G>A | ENSP00000460092.3:p.Arg2246His | |
| ENST00000585802.6:c.1856G>A | ENSP00000465598.2:p.Arg619His | |
| ENST00000635727.1:c.6734G>A | ENSP00000490001.1:p.Arg2245His | |
| ENST00000635895.1:c.6734G>A | ENSP00000490323.1:p.Arg2245His | |
| ENST00000636012.1:c.6698G>A | ENSP00000490223.1:p.Arg2233His | |
| ENST00000636389.1:c.6734G>A | ENSP00000489992.1:p.Arg2245His | |
| ENST00000636473.1:c.1601G>A | ENSP00000490173.1:p.Arg534His | |
| ENST00000636549.1:c.6740G>A | ENSP00000490578.1:p.Arg2247His | |
| ENST00000637276.1:c.6698G>A | ENSP00000489777.1:p.Arg2233His | |
| ENST00000637432.1:c.6749G>A | ENSP00000490617.1:p.Arg2250His | |
| ENST00000637736.1:c.6593G>A | ENSP00000489861.1:p.Arg2198His | |
| ENST00000637769.1:c.6734G>A | ENSP00000489778.1:p.Arg2245His | |
| ENST00000637927.1:c.6737G>A | ENSP00000489715.1:p.Arg2246His | |
| ENST00000638009.2:c.6734G>A | ENSP00000489913.1:p.Arg2245His | |
| ENST00000638029.1:c.6749G>A | ENSP00000489829.1:p.Arg2250His | |
| ENST00000664864.1:c.6935G>A | ENSP00000499449.1:p.Arg2312His | |
| ENST00000360228.9:c.6731G>A | ENSP00000353362.5:p.Arg2244His | |
| ENST00000573710.6:c.6734G>A | ENSP00000460092.2:p.Arg2245His | |
| ENST00000585802.5:c.2753G>A | ENSP00000465598.1:p.Arg918His | |
| ENST00000587525.5:c.2156G>A | ENSP00000467729.1:p.Arg719His | |
| ENST00000614285.4:c.6749G>A | ENSP00000479983.1:p.Arg2250His | |
| NM_000068.3:c.6749G>A | NP_000059.3:p.Arg2250His | |
| NM_001127221.1:c.6734G>A , LRG_7t1:c.6734G>A | NP_001120693.1:p.Arg2245His | |
| NM_001127222.1:c.6731G>A | NP_001120694.1:p.Arg2244His | |
| NM_001174080.1:c.6740G>A | NP_001167551.1:p.Arg2247His | |
| NM_023035.2:c.6749G>A | NP_075461.2:p.Arg2250His | |
| NM_000068.4:c.6749G>A | NP_000059.3:p.Arg2250His | |
| NM_001127222.2:c.6731G>A MANE Select | NP_001120694.1:p.Arg2244His | |
| NM_001174080.2:c.6740G>A | NP_001167551.1:p.Arg2247His | |
| NM_023035.3:c.6749G>A | NP_075461.2:p.Arg2250His | |
| NM_001127221.2:c.6734G>A | NP_001120693.1:p.Arg2245His |