ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004534 (NFE)
Genomes Max Group AF
0.00001982 (NFE)
Exomes Max Group AF
0.00004456 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13208877G>T , CM000681.2:g.13208877G>T | GRCh38 |
| NC_000019.9:g.13319691G>T , CM000681.1:g.13319691G>T | GRCh37 |
| NC_000019.8:g.13180691G>T | NCBI36 |
| NG_011569.1:g.302584C>A , LRG_7:g.302584C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.6659C>A MANE Select | ENSP00000353362.5:p.Pro2220His | |
| ENST00000573710.7:c.6665C>A | ENSP00000460092.3:p.Pro2222His | |
| ENST00000585802.6:c.1784C>A | ENSP00000465598.2:p.Pro595His | |
| ENST00000635727.1:c.6662C>A | ENSP00000490001.1:p.Pro2221His | |
| ENST00000635895.1:c.6662C>A | ENSP00000490323.1:p.Pro2221His | |
| ENST00000636012.1:c.6626C>A | ENSP00000490223.1:p.Pro2209His | |
| ENST00000636389.1:c.6662C>A | ENSP00000489992.1:p.Pro2221His | |
| ENST00000636473.1:c.1529C>A | ENSP00000490173.1:p.Pro510His | |
| ENST00000636549.1:c.6668C>A | ENSP00000490578.1:p.Pro2223His | |
| ENST00000637276.1:c.6626C>A | ENSP00000489777.1:p.Pro2209His | |
| ENST00000637432.1:c.6677C>A | ENSP00000490617.1:p.Pro2226His | |
| ENST00000637736.1:c.6521C>A | ENSP00000489861.1:p.Pro2174His | |
| ENST00000637769.1:c.6662C>A | ENSP00000489778.1:p.Pro2221His | |
| ENST00000637927.1:c.6665C>A | ENSP00000489715.1:p.Pro2222His | |
| ENST00000638009.2:c.6662C>A | ENSP00000489913.1:p.Pro2221His | |
| ENST00000638029.1:c.6677C>A | ENSP00000489829.1:p.Pro2226His | |
| ENST00000664864.1:c.6863C>A | ENSP00000499449.1:p.Pro2288His | |
| ENST00000360228.9:c.6659C>A | ENSP00000353362.5:p.Pro2220His | |
| ENST00000573710.6:c.6662C>A | ENSP00000460092.2:p.Pro2221His | |
| ENST00000585802.5:c.2681C>A | ENSP00000465598.1:p.Pro894His | |
| ENST00000587525.5:c.2084C>A | ENSP00000467729.1:p.Pro695His | |
| ENST00000614285.4:c.6677C>A | ENSP00000479983.1:p.Pro2226His | |
| NM_000068.3:c.6677C>A | NP_000059.3:p.Pro2226His | |
| NM_001127221.1:c.6662C>A , LRG_7t1:c.6662C>A | NP_001120693.1:p.Pro2221His | |
| NM_001127222.1:c.6659C>A | NP_001120694.1:p.Pro2220His | |
| NM_001174080.1:c.6668C>A | NP_001167551.1:p.Pro2223His | |
| NM_023035.2:c.6677C>A | NP_075461.2:p.Pro2226His | |
| NM_000068.4:c.6677C>A | NP_000059.3:p.Pro2226His | |
| NM_001127222.2:c.6659C>A MANE Select | NP_001120694.1:p.Pro2220His | |
| NM_001174080.2:c.6668C>A | NP_001167551.1:p.Pro2223His | |
| NM_023035.3:c.6677C>A | NP_075461.2:p.Pro2226His | |
| NM_001127221.2:c.6662C>A | NP_001120693.1:p.Pro2221His |