Linked Data
ClinVar Variation Id:
3049770
ClinVar RCV Id:
RCV003985658
dbSNP Id:
rs539546830
ExAC:
19:13318208 G / A
gnomAD v2:
19-13318208-G-A
gnomAD v3:
19-13207394-G-A
gnomAD v4:
19-13207394-G-A
MyVariant Identifiers:
chr19:g.13318208G>A (hg19)
chr19:g.13318208_13318209delinsAT (hg19)
chr19:g.13207394G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13207394G>A , CM000681.2:g.13207394G>A | GRCh38 |
| NC_000019.9:g.13318208G>A , CM000681.1:g.13318208G>A | GRCh37 |
| NC_000019.8:g.13179208G>A | NCBI36 |
| NG_011569.1:g.304067C>T , LRG_7:g.304067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.7440C>T MANE Select | ENSP00000353362.5:p.His2480= | |
| ENST00000573710.7:c.7446C>T | ENSP00000460092.3:p.His2482= | |
| ENST00000585802.6:c.2565C>T | ENSP00000465598.2:p.His855= | |
| ENST00000635727.1:c.7443C>T | ENSP00000490001.1:p.His2481= | |
| ENST00000635895.1:c.*652C>T | ENSP00000490323.1:n.*652C>T | |
| ENST00000636012.1:c.7407C>T | ENSP00000490223.1:p.His2469= | |
| ENST00000636389.1:c.*526C>T | ENSP00000489992.1:n.*526C>T | |
| ENST00000637432.1:c.*652C>T | ENSP00000490617.1:n.*652C>T | |
| ENST00000637736.1:c.7302C>T | ENSP00000489861.1:p.His2434= | |
| ENST00000637769.1:c.7443C>T | ENSP00000489778.1:p.His2481= | |
| ENST00000638009.2:c.*652C>T | ENSP00000489913.1:n.*652C>T | |
| ENST00000638029.1:c.7458C>T | ENSP00000489829.1:p.His2486= | |
| ENST00000360228.9:c.7440C>T | ENSP00000353362.5:p.His2480= | |
| ENST00000573710.6:c.*652C>T | ENSP00000460092.2:n.*652C>T | |
| ENST00000585802.5:c.3462C>T | ENSP00000465598.1:p.His1154= | |
| ENST00000587525.5:c.2865C>T | ENSP00000467729.1:p.His955= | |
| ENST00000614285.4:c.7458C>T | ENSP00000479983.1:p.His2486= | |
| NM_000068.3:c.*652C>T | NP_000059.3:n.*652C>T | |
| NM_001127221.1:c.*652C>T , LRG_7t1:c.*652C>T | NP_001120693.1:n.*652C>T | |
| NM_001127222.1:c.7440C>T | NP_001120694.1:p.His2480= | |
| NM_001174080.1:c.*652C>T | NP_001167551.1:n.*652C>T | |
| NM_023035.2:c.7458C>T | NP_075461.2:p.His2486= | |
| NM_000068.4:c.*652C>T | NP_000059.3:n.*652C>T | |
| NM_001127222.2:c.7440C>T MANE Select | NP_001120694.1:p.His2480= | |
| NM_001174080.2:c.*652C>T | NP_001167551.1:n.*652C>T | |
| NM_023035.3:c.7458C>T | NP_075461.2:p.His2486= | |
| NM_001127221.2:c.*652C>T | NP_001120693.1:n.*652C>T |