Linked Data
ClinVar Variation Id:
392420
dbSNP Id:
rs1057524483
gnomAD v2:
19-13373649-T-C
gnomAD v4:
19-13262835-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13262835T>C , CM000681.2:g.13262835T>C | GRCh38 |
| NC_000019.9:g.13373649T>C , CM000681.1:g.13373649T>C | GRCh37 |
| NC_000019.8:g.13234649T>C | NCBI36 |
| NG_011569.1:g.248626A>G , LRG_7:g.248626A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.3990-2A>G MANE Select | ENSP00000353362.5:n.3990-2A>G | |
| ENST00000573710.7:c.3996-2A>G | ENSP00000460092.3:n.3996-2A>G | |
| ENST00000635727.1:c.3993-2A>G | ENSP00000490001.1:n.3993-2A>G | |
| ENST00000635895.1:c.3993-2A>G | ENSP00000490323.1:n.3993-2A>G | |
| ENST00000635917.1:n.482-2A>G | ||
| ENST00000636012.1:c.3993-2A>G | ENSP00000490223.1:n.3993-2A>G | |
| ENST00000636389.1:c.3993-2A>G | ENSP00000489992.1:n.3993-2A>G | |
| ENST00000636549.1:c.3993-2A>G | ENSP00000490578.1:n.3993-2A>G | |
| ENST00000636816.1:n.676A>G | ||
| ENST00000637004.1:n.456-2A>G | ||
| ENST00000637276.1:c.3993-2A>G | ENSP00000489777.1:n.3993-2A>G | |
| ENST00000637432.1:c.4002-2A>G | ENSP00000490617.1:n.4002-2A>G | |
| ENST00000637692.1:n.310A>G | ||
| ENST00000637736.1:c.3852-2A>G | ENSP00000489861.1:n.3852-2A>G | |
| ENST00000637769.1:c.3993-2A>G | ENSP00000489778.1:n.3993-2A>G | |
| ENST00000637927.1:c.3996-2A>G | ENSP00000489715.1:n.3996-2A>G | |
| ENST00000638009.2:c.3993-2A>G | ENSP00000489913.1:n.3993-2A>G | |
| ENST00000638029.1:c.4002-2A>G | ENSP00000489829.1:n.4002-2A>G | |
| ENST00000664864.1:c.4188-2A>G | ENSP00000499449.1:n.4188-2A>G | |
| ENST00000360228.9:c.3990-2A>G | ENSP00000353362.5:n.3990-2A>G | |
| ENST00000573710.6:c.3993-2A>G | ENSP00000460092.2:n.3993-2A>G | |
| ENST00000585802.5:c.48-2A>G | ENSP00000465598.1:n.48-2A>G | |
| ENST00000590205.1:n.67A>G | ||
| ENST00000614285.4:c.4002-2A>G | ENSP00000479983.1:n.4002-2A>G | |
| NM_000068.3:c.4002-2A>G | NP_000059.3:n.4002-2A>G | |
| NM_001127221.1:c.3993-2A>G , LRG_7t1:c.3993-2A>G | NP_001120693.1:n.3993-2A>G | |
| NM_001127222.1:c.3990-2A>G | NP_001120694.1:n.3990-2A>G | |
| NM_001174080.1:c.3993-2A>G | NP_001167551.1:n.3993-2A>G | |
| NM_023035.2:c.4002-2A>G | NP_075461.2:n.4002-2A>G | |
| NM_000068.4:c.4002-2A>G | NP_000059.3:n.4002-2A>G | |
| NM_001127222.2:c.3990-2A>G MANE Select | NP_001120694.1:n.3990-2A>G | |
| NM_001174080.2:c.3993-2A>G | NP_001167551.1:n.3993-2A>G | |
| NM_023035.3:c.4002-2A>G | NP_075461.2:n.4002-2A>G | |
| NM_001127221.2:c.3993-2A>G | NP_001120693.1:n.3993-2A>G |