Linked Data
ClinVar Variation Id:
422571
dbSNP Id:
rs551380805
ExAC:
19:13409580 C / A
gnomAD v2:
19-13409580-C-A
gnomAD v3:
19-13298766-C-A
gnomAD v4:
19-13298766-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13298766C>A , CM000681.2:g.13298766C>A | GRCh38 |
| NC_000019.9:g.13409580C>A , CM000681.1:g.13409580C>A | GRCh37 |
| NC_000019.8:g.13270580C>A | NCBI36 |
| NG_011569.1:g.212695G>T , LRG_7:g.212695G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.2867G>T MANE Select | ENSP00000353362.5:p.Arg956Leu | |
| ENST00000573710.7:c.2873G>T | ENSP00000460092.3:p.Arg958Leu | |
| ENST00000635727.1:c.2870G>T | ENSP00000490001.1:p.Arg957Leu | |
| ENST00000635895.1:c.2870G>T | ENSP00000490323.1:p.Arg957Leu | |
| ENST00000636012.1:c.2870G>T | ENSP00000490223.1:p.Arg957Leu | |
| ENST00000636389.1:c.2870G>T | ENSP00000489992.1:p.Arg957Leu | |
| ENST00000636549.1:c.2870G>T | ENSP00000490578.1:p.Arg957Leu | |
| ENST00000637276.1:c.2870G>T | ENSP00000489777.1:p.Arg957Leu | |
| ENST00000637432.1:c.2879G>T | ENSP00000490617.1:p.Arg960Leu | |
| ENST00000637736.1:c.2729G>T | ENSP00000489861.1:p.Arg910Leu | |
| ENST00000637769.1:c.2870G>T | ENSP00000489778.1:p.Arg957Leu | |
| ENST00000637927.1:c.2873G>T | ENSP00000489715.1:p.Arg958Leu | |
| ENST00000638009.2:c.2870G>T | ENSP00000489913.1:p.Arg957Leu | |
| ENST00000638029.1:c.2879G>T | ENSP00000489829.1:p.Arg960Leu | |
| ENST00000664864.1:c.3065G>T | ENSP00000499449.1:p.Arg1022Leu | |
| ENST00000360228.9:c.2867G>T | ENSP00000353362.5:p.Arg956Leu | |
| ENST00000573710.6:c.2870G>T | ENSP00000460092.2:p.Arg957Leu | |
| ENST00000614285.4:c.2879G>T | ENSP00000479983.1:p.Arg960Leu | |
| NM_000068.3:c.2879G>T | NP_000059.3:p.Arg960Leu | |
| NM_001127221.1:c.2870G>T , LRG_7t1:c.2870G>T | NP_001120693.1:p.Arg957Leu | |
| NM_001127222.1:c.2867G>T | NP_001120694.1:p.Arg956Leu | |
| NM_001174080.1:c.2870G>T | NP_001167551.1:p.Arg957Leu | |
| NM_023035.2:c.2879G>T | NP_075461.2:p.Arg960Leu | |
| NM_000068.4:c.2879G>T | NP_000059.3:p.Arg960Leu | |
| NM_001127222.2:c.2867G>T MANE Select | NP_001120694.1:p.Arg956Leu | |
| NM_001174080.2:c.2870G>T | NP_001167551.1:p.Arg957Leu | |
| NM_023035.3:c.2879G>T | NP_075461.2:p.Arg960Leu | |
| NM_001127221.2:c.2870G>T | NP_001120693.1:p.Arg957Leu |