Linked Data
ClinVar Variation Id:
385556
dbSNP Id:
rs368480650
ExAC:
19:13323033 G / T
gnomAD v2:
19-13323033-G-T
gnomAD v3:
19-13212219-G-T
gnomAD v4:
19-13212219-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13212219G>T , CM000681.2:g.13212219G>T | GRCh38 |
| NC_000019.9:g.13323033G>T , CM000681.1:g.13323033G>T | GRCh37 |
| NC_000019.8:g.13184033G>T | NCBI36 |
| NG_011569.1:g.299242C>A , LRG_7:g.299242C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.6190-3C>A MANE Select | ENSP00000353362.5:n.6190-3C>A | |
| ENST00000573710.7:c.6196-3C>A | ENSP00000460092.3:n.6196-3C>A | |
| ENST00000585802.6:c.1351-3C>A | ENSP00000465598.2:n.1351-3C>A | |
| ENST00000635727.1:c.6193-3C>A | ENSP00000490001.1:n.6193-3C>A | |
| ENST00000635895.1:c.6193-3C>A | ENSP00000490323.1:n.6193-3C>A | |
| ENST00000636012.1:c.6193-3C>A | ENSP00000490223.1:n.6193-3C>A | |
| ENST00000636389.1:c.6193-3C>A | ENSP00000489992.1:n.6193-3C>A | |
| ENST00000636473.1:c.1060-3C>A | ENSP00000490173.1:n.1060-3C>A | |
| ENST00000636549.1:c.6199-3C>A | ENSP00000490578.1:n.6199-3C>A | |
| ENST00000636610.1:n.1107-3C>A | ||
| ENST00000636768.1:c.720-3C>A | ENSP00000490190.1:n.720-3C>A | |
| ENST00000637276.1:c.6193-3C>A | ENSP00000489777.1:n.6193-3C>A | |
| ENST00000637432.1:c.6208-3C>A | ENSP00000490617.1:n.6208-3C>A | |
| ENST00000637736.1:c.6052-3C>A | ENSP00000489861.1:n.6052-3C>A | |
| ENST00000637769.1:c.6193-3C>A | ENSP00000489778.1:n.6193-3C>A | |
| ENST00000637927.1:c.6196-3C>A | ENSP00000489715.1:n.6196-3C>A | |
| ENST00000638009.2:c.6193-3C>A | ENSP00000489913.1:n.6193-3C>A | |
| ENST00000638029.1:c.6208-3C>A | ENSP00000489829.1:n.6208-3C>A | |
| ENST00000664864.1:c.6394-3C>A | ENSP00000499449.1:n.6394-3C>A | |
| ENST00000360228.9:c.6190-3C>A | ENSP00000353362.5:n.6190-3C>A | |
| ENST00000573710.6:c.6193-3C>A | ENSP00000460092.2:n.6193-3C>A | |
| ENST00000585802.5:c.2248-3C>A | ENSP00000465598.1:n.2248-3C>A | |
| ENST00000587525.5:c.1651-3C>A | ENSP00000467729.1:n.1651-3C>A | |
| ENST00000614285.4:c.6208-3C>A | ENSP00000479983.1:n.6208-3C>A | |
| NM_000068.3:c.6208-3C>A | NP_000059.3:n.6208-3C>A | |
| NM_001127221.1:c.6193-3C>A , LRG_7t1:c.6193-3C>A | NP_001120693.1:n.6193-3C>A | |
| NM_001127222.1:c.6190-3C>A | NP_001120694.1:n.6190-3C>A | |
| NM_001174080.1:c.6199-3C>A | NP_001167551.1:n.6199-3C>A | |
| NM_023035.2:c.6208-3C>A | NP_075461.2:n.6208-3C>A | |
| NM_000068.4:c.6208-3C>A | NP_000059.3:n.6208-3C>A | |
| NM_001127222.2:c.6190-3C>A MANE Select | NP_001120694.1:n.6190-3C>A | |
| NM_001174080.2:c.6199-3C>A | NP_001167551.1:n.6199-3C>A | |
| NM_023035.3:c.6208-3C>A | NP_075461.2:n.6208-3C>A | |
| NM_001127221.2:c.6193-3C>A | NP_001120693.1:n.6193-3C>A |