Linked Data
ClinVar Variation Id:
446945
dbSNP Id:
rs1052515747
gnomAD v2:
19-13318357-C-T
gnomAD v3:
19-13207543-C-T
gnomAD v4:
19-13207543-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13207543C>T , CM000681.2:g.13207543C>T | GRCh38 |
| NC_000019.9:g.13318357C>T , CM000681.1:g.13318357C>T | GRCh37 |
| NC_000019.8:g.13179357C>T | NCBI36 |
| NG_011569.1:g.303918G>A , LRG_7:g.303918G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.7291G>A MANE Select | ENSP00000353362.5:p.Ala2431Thr | |
| ENST00000573710.7:c.7297G>A | ENSP00000460092.3:p.Ala2433Thr | |
| ENST00000585802.6:c.2416G>A | ENSP00000465598.2:p.Ala806Thr | |
| ENST00000635727.1:c.7294G>A | ENSP00000490001.1:p.Ala2432Thr | |
| ENST00000635895.1:c.*503G>A | ENSP00000490323.1:n.*503G>A | |
| ENST00000636012.1:c.7258G>A | ENSP00000490223.1:p.Ala2420Thr | |
| ENST00000636389.1:c.*377G>A | ENSP00000489992.1:n.*377G>A | |
| ENST00000637432.1:c.*503G>A | ENSP00000490617.1:n.*503G>A | |
| ENST00000637736.1:c.7153G>A | ENSP00000489861.1:p.Ala2385Thr | |
| ENST00000637769.1:c.7294G>A | ENSP00000489778.1:p.Ala2432Thr | |
| ENST00000638009.2:c.*503G>A | ENSP00000489913.1:n.*503G>A | |
| ENST00000638029.1:c.7309G>A | ENSP00000489829.1:p.Ala2437Thr | |
| ENST00000360228.9:c.7291G>A | ENSP00000353362.5:p.Ala2431Thr | |
| ENST00000573710.6:c.*503G>A | ENSP00000460092.2:n.*503G>A | |
| ENST00000585802.5:c.3313G>A | ENSP00000465598.1:p.Ala1105Thr | |
| ENST00000587525.5:c.2716G>A | ENSP00000467729.1:p.Ala906Thr | |
| ENST00000614285.4:c.7309G>A | ENSP00000479983.1:p.Ala2437Thr | |
| NM_000068.3:c.*503G>A | NP_000059.3:n.*503G>A | |
| NM_001127221.1:c.*503G>A , LRG_7t1:c.*503G>A | NP_001120693.1:n.*503G>A | |
| NM_001127222.1:c.7291G>A | NP_001120694.1:p.Ala2431Thr | |
| NM_001174080.1:c.*503G>A | NP_001167551.1:n.*503G>A | |
| NM_023035.2:c.7309G>A | NP_075461.2:p.Ala2437Thr | |
| NM_000068.4:c.*503G>A | NP_000059.3:n.*503G>A | |
| NM_001127222.2:c.7291G>A MANE Select | NP_001120694.1:p.Ala2431Thr | |
| NM_001174080.2:c.*503G>A | NP_001167551.1:n.*503G>A | |
| NM_023035.3:c.7309G>A | NP_075461.2:p.Ala2437Thr | |
| NM_001127221.2:c.*503G>A | NP_001120693.1:n.*503G>A |