Linked Data
ClinVar Variation Id:
500377
dbSNP Id:
rs201350764
ExAC:
19:13419071 G / A
gnomAD v2:
19-13419071-G-A
gnomAD v3:
19-13308257-G-A
gnomAD v4:
19-13308257-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13308257G>A , CM000681.2:g.13308257G>A | GRCh38 |
| NC_000019.9:g.13419071G>A , CM000681.1:g.13419071G>A | GRCh37 |
| NC_000019.8:g.13280071G>A | NCBI36 |
| NG_011569.1:g.203204C>T , LRG_7:g.203204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.1782-6C>T MANE Select | ENSP00000353362.5:n.1782-6C>T | |
| ENST00000573710.7:c.1788-6C>T | ENSP00000460092.3:n.1788-6C>T | |
| ENST00000635727.1:c.1785-6C>T | ENSP00000490001.1:n.1785-6C>T | |
| ENST00000635895.1:c.1785-6C>T | ENSP00000490323.1:n.1785-6C>T | |
| ENST00000636012.1:c.1785-6C>T | ENSP00000490223.1:n.1785-6C>T | |
| ENST00000636389.1:c.1785-6C>T | ENSP00000489992.1:n.1785-6C>T | |
| ENST00000636549.1:c.1785-6C>T | ENSP00000490578.1:n.1785-6C>T | |
| ENST00000636974.1:n.1144-6C>T | ||
| ENST00000637117.1:n.417-6C>T | ||
| ENST00000637276.1:c.1785-6C>T | ENSP00000489777.1:n.1785-6C>T | |
| ENST00000637432.1:c.1785-6C>T | ENSP00000490617.1:n.1785-6C>T | |
| ENST00000637736.1:c.1644-6C>T | ENSP00000489861.1:n.1644-6C>T | |
| ENST00000637769.1:c.1785-6C>T | ENSP00000489778.1:n.1785-6C>T | |
| ENST00000637927.1:c.1788-6C>T | ENSP00000489715.1:n.1788-6C>T | |
| ENST00000637966.1:n.1638-6C>T | ||
| ENST00000638009.2:c.1785-6C>T | ENSP00000489913.1:n.1785-6C>T | |
| ENST00000638029.1:c.1785-6C>T | ENSP00000489829.1:n.1785-6C>T | |
| ENST00000664864.1:c.1980-6C>T | ENSP00000499449.1:n.1980-6C>T | |
| ENST00000360228.9:c.1782-6C>T | ENSP00000353362.5:n.1782-6C>T | |
| ENST00000573710.6:c.1785-6C>T | ENSP00000460092.2:n.1785-6C>T | |
| ENST00000614285.4:c.1785-6C>T | ENSP00000479983.1:n.1785-6C>T | |
| NM_000068.3:c.1785-6C>T | NP_000059.3:n.1785-6C>T | |
| NM_001127221.1:c.1785-6C>T , LRG_7t1:c.1785-6C>T | NP_001120693.1:n.1785-6C>T | |
| NM_001127222.1:c.1782-6C>T | NP_001120694.1:n.1782-6C>T | |
| NM_001174080.1:c.1785-6C>T | NP_001167551.1:n.1785-6C>T | |
| NM_023035.2:c.1785-6C>T | NP_075461.2:n.1785-6C>T | |
| NM_000068.4:c.1785-6C>T | NP_000059.3:n.1785-6C>T | |
| NM_001127222.2:c.1782-6C>T MANE Select | NP_001120694.1:n.1782-6C>T | |
| NM_001174080.2:c.1785-6C>T | NP_001167551.1:n.1785-6C>T | |
| NM_023035.3:c.1785-6C>T | NP_075461.2:n.1785-6C>T | |
| NM_001127221.2:c.1785-6C>T | NP_001120693.1:n.1785-6C>T |