Linked Data
ClinVar Variation Id:
446939
dbSNP Id:
rs750077868
ExAC:
19:13320221 G / A
gnomAD v2:
19-13320221-G-A
gnomAD v3:
19-13209407-G-A
gnomAD v4:
19-13209407-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13209407G>A , CM000681.2:g.13209407G>A | GRCh38 |
| NC_000019.9:g.13320221G>A , CM000681.1:g.13320221G>A | GRCh37 |
| NC_000019.8:g.13181221G>A | NCBI36 |
| NG_011569.1:g.302054C>T , LRG_7:g.302054C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.6431C>T MANE Select | ENSP00000353362.5:p.Pro2144Leu | |
| ENST00000573710.7:c.6437C>T | ENSP00000460092.3:p.Pro2146Leu | |
| ENST00000585802.6:c.1556C>T | ENSP00000465598.2:p.Pro519Leu | |
| ENST00000635727.1:c.6434C>T | ENSP00000490001.1:p.Pro2145Leu | |
| ENST00000635895.1:c.6434C>T | ENSP00000490323.1:p.Pro2145Leu | |
| ENST00000636012.1:c.6398C>T | ENSP00000490223.1:p.Pro2133Leu | |
| ENST00000636389.1:c.6434C>T | ENSP00000489992.1:p.Pro2145Leu | |
| ENST00000636473.1:c.1301C>T | ENSP00000490173.1:p.Pro434Leu | |
| ENST00000636549.1:c.6440C>T | ENSP00000490578.1:p.Pro2147Leu | |
| ENST00000636610.1:n.2798C>T | ||
| ENST00000636768.1:c.925C>T | ENSP00000490190.1:n.925C>T | |
| ENST00000637276.1:c.6398C>T | ENSP00000489777.1:p.Pro2133Leu | |
| ENST00000637432.1:c.6449C>T | ENSP00000490617.1:p.Pro2150Leu | |
| ENST00000637736.1:c.6293C>T | ENSP00000489861.1:p.Pro2098Leu | |
| ENST00000637769.1:c.6434C>T | ENSP00000489778.1:p.Pro2145Leu | |
| ENST00000637927.1:c.6437C>T | ENSP00000489715.1:p.Pro2146Leu | |
| ENST00000638009.2:c.6434C>T | ENSP00000489913.1:p.Pro2145Leu | |
| ENST00000638029.1:c.6449C>T | ENSP00000489829.1:p.Pro2150Leu | |
| ENST00000664864.1:c.6635C>T | ENSP00000499449.1:p.Pro2212Leu | |
| ENST00000360228.9:c.6431C>T | ENSP00000353362.5:p.Pro2144Leu | |
| ENST00000573710.6:c.6434C>T | ENSP00000460092.2:p.Pro2145Leu | |
| ENST00000585802.5:c.2453C>T | ENSP00000465598.1:p.Pro818Leu | |
| ENST00000587525.5:c.1856C>T | ENSP00000467729.1:p.Pro619Leu | |
| ENST00000614285.4:c.6449C>T | ENSP00000479983.1:p.Pro2150Leu | |
| NM_000068.3:c.6449C>T | NP_000059.3:p.Pro2150Leu | |
| NM_001127221.1:c.6434C>T , LRG_7t1:c.6434C>T | NP_001120693.1:p.Pro2145Leu | |
| NM_001127222.1:c.6431C>T | NP_001120694.1:p.Pro2144Leu | |
| NM_001174080.1:c.6440C>T | NP_001167551.1:p.Pro2147Leu | |
| NM_023035.2:c.6449C>T | NP_075461.2:p.Pro2150Leu | |
| NM_000068.4:c.6449C>T | NP_000059.3:p.Pro2150Leu | |
| NM_001127222.2:c.6431C>T MANE Select | NP_001120694.1:p.Pro2144Leu | |
| NM_001174080.2:c.6440C>T | NP_001167551.1:p.Pro2147Leu | |
| NM_023035.3:c.6449C>T | NP_075461.2:p.Pro2150Leu | |
| NM_001127221.2:c.6434C>T | NP_001120693.1:p.Pro2145Leu |