Linked Data
ClinVar Variation Id:
128553
dbSNP Id:
rs16030
ExAC:
19:13387904 A / G
gnomAD v2:
19-13387904-A-G
gnomAD v3:
19-13277090-A-G
gnomAD v4:
19-13277090-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13277090A>G , CM000681.2:g.13277090A>G | GRCh38 |
| NC_000019.9:g.13387904A>G , CM000681.1:g.13387904A>G | GRCh37 |
| NC_000019.8:g.13248904A>G | NCBI36 |
| NG_011569.1:g.234371T>C , LRG_7:g.234371T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360228.11:c.3861T>C MANE Select | ENSP00000353362.5:p.Phe1287= | |
| ENST00000573710.7:c.3867T>C | ENSP00000460092.3:p.Phe1289= | |
| ENST00000635727.1:c.3864T>C | ENSP00000490001.1:p.Phe1288= | |
| ENST00000635786.1:n.360T>C | ||
| ENST00000635895.1:c.3864T>C | ENSP00000490323.1:p.Phe1288= | |
| ENST00000635917.1:n.353T>C | ||
| ENST00000636012.1:c.3864T>C | ENSP00000490223.1:p.Phe1288= | |
| ENST00000636389.1:c.3864T>C | ENSP00000489992.1:p.Phe1288= | |
| ENST00000636549.1:c.3864T>C | ENSP00000490578.1:p.Phe1288= | |
| ENST00000637004.1:n.327T>C | ||
| ENST00000637276.1:c.3864T>C | ENSP00000489777.1:p.Phe1288= | |
| ENST00000637432.1:c.3873T>C | ENSP00000490617.1:p.Phe1291= | |
| ENST00000637485.1:n.844T>C | ||
| ENST00000637736.1:c.3723T>C | ENSP00000489861.1:p.Phe1241= | |
| ENST00000637769.1:c.3864T>C | ENSP00000489778.1:p.Phe1288= | |
| ENST00000637774.1:n.1341T>C | ||
| ENST00000637927.1:c.3867T>C | ENSP00000489715.1:p.Phe1289= | |
| ENST00000638009.2:c.3864T>C | ENSP00000489913.1:p.Phe1288= | |
| ENST00000638029.1:c.3873T>C | ENSP00000489829.1:p.Phe1291= | |
| ENST00000664864.1:c.4059T>C | ENSP00000499449.1:p.Phe1353= | |
| ENST00000360228.9:c.3861T>C | ENSP00000353362.5:p.Phe1287= | |
| ENST00000573710.6:c.3864T>C | ENSP00000460092.2:p.Phe1288= | |
| ENST00000614285.4:c.3873T>C | ENSP00000479983.1:p.Phe1291= | |
| NM_000068.3:c.3873T>C | NP_000059.3:p.Phe1291= | |
| NM_001127221.1:c.3864T>C , LRG_7t1:c.3864T>C | NP_001120693.1:p.Phe1288= | |
| NM_001127222.1:c.3861T>C | NP_001120694.1:p.Phe1287= | |
| NM_001174080.1:c.3864T>C | NP_001167551.1:p.Phe1288= | |
| NM_023035.2:c.3873T>C | NP_075461.2:p.Phe1291= | |
| NM_000068.4:c.3873T>C | NP_000059.3:p.Phe1291= | |
| NM_001127222.2:c.3861T>C MANE Select | NP_001120694.1:p.Phe1287= | |
| NM_001174080.2:c.3864T>C | NP_001167551.1:p.Phe1288= | |
| NM_023035.3:c.3873T>C | NP_075461.2:p.Phe1291= | |
| NM_001127221.2:c.3864T>C | NP_001120693.1:p.Phe1288= |