Linked Data
dbSNP Id:
rs12609735
gnomAD v2:
19-13588516-T-C
gnomAD v3:
19-13477702-T-C
gnomAD v4:
19-13477702-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13477702T>C , CM000681.2:g.13477702T>C | GRCh38 |
| NC_000019.9:g.13588516T>C , CM000681.1:g.13588516T>C | GRCh37 |
| NC_000019.8:g.13449516T>C | NCBI36 |
| NG_011569.1:g.33759A>G , LRG_7:g.33759A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360228.11:c.294-22490A>G MANE Select | ENSP00000353362.5:n.294-22490A>G | |
| ENST00000573710.7:c.294-22490A>G | ENSP00000460092.3:n.294-22490A>G | |
| ENST00000574974.3:c.195-22513A>G | ENSP00000459963.2:n.195-22513A>G | |
| ENST00000593160.2:n.9-22490A>G | ||
| ENST00000635727.1:c.294-22490A>G | ENSP00000490001.1:n.294-22490A>G | |
| ENST00000635895.1:c.294-22490A>G | ENSP00000490323.1:n.294-22490A>G | |
| ENST00000636012.1:c.294-22490A>G | ENSP00000490223.1:n.294-22490A>G | |
| ENST00000636389.1:c.294-22490A>G | ENSP00000489992.1:n.294-22490A>G | |
| ENST00000636549.1:c.294-22490A>G | ENSP00000490578.1:n.294-22490A>G | |
| ENST00000636966.1:n.182-22490A>G | ||
| ENST00000637276.1:c.294-22490A>G | ENSP00000489777.1:n.294-22490A>G | |
| ENST00000637432.1:c.294-22490A>G | ENSP00000490617.1:n.294-22490A>G | |
| ENST00000637616.1:n.302-22490A>G | ||
| ENST00000637736.1:c.259-24687A>G | ENSP00000489861.1:n.259-24687A>G | |
| ENST00000637769.1:c.294-22490A>G | ENSP00000489778.1:n.294-22490A>G | |
| ENST00000637927.1:c.294-22490A>G | ENSP00000489715.1:n.294-22490A>G | |
| ENST00000637966.1:n.147-22490A>G | ||
| ENST00000637981.1:n.112-22490A>G | ||
| ENST00000638009.2:c.294-22490A>G | ENSP00000489913.1:n.294-22490A>G | |
| ENST00000638029.1:c.294-22490A>G | ENSP00000489829.1:n.294-22490A>G | |
| ENST00000664864.1:c.489-22490A>G | ENSP00000499449.1:n.489-22490A>G | |
| ENST00000360228.9:c.294-22490A>G | ENSP00000353362.5:n.294-22490A>G | |
| ENST00000573710.6:c.294-22490A>G | ENSP00000460092.2:n.294-22490A>G | |
| ENST00000574974.1:c.68-22513A>G | ENSP00000459963.1:n.68-22513A>G | |
| ENST00000614285.4:c.295-22491A>G | ENSP00000479983.1:n.295-22491A>G | |
| NM_000068.3:c.294-22490A>G | NP_000059.3:n.294-22490A>G | |
| NM_001127221.1:c.294-22490A>G , LRG_7t1:c.294-22490A>G | NP_001120693.1:n.294-22490A>G | |
| NM_001127222.1:c.294-22490A>G | NP_001120694.1:n.294-22490A>G | |
| NM_001174080.1:c.294-22490A>G | NP_001167551.1:n.294-22490A>G | |
| NM_023035.2:c.294-22490A>G | NP_075461.2:n.294-22490A>G | |
| NM_000068.4:c.294-22490A>G | NP_000059.3:n.294-22490A>G | |
| NM_001127222.2:c.294-22490A>G MANE Select | NP_001120694.1:n.294-22490A>G | |
| NM_001174080.2:c.294-22490A>G | NP_001167551.1:n.294-22490A>G | |
| NM_023035.3:c.294-22490A>G | NP_075461.2:n.294-22490A>G | |
| NM_001127221.2:c.294-22490A>G | NP_001120693.1:n.294-22490A>G |