Linked Data
ClinVar Variation Id:
195041
ClinVar RCV Id:
RCV000175554
RCV000342749
RCV000285456
RCV000408261
RCV000724825
RCV003884376
RCV004539629
dbSNP Id:
rs144836032
ExAC:
19:7267818 A / G
gnomAD v2:
19-7267818-A-G
gnomAD v3:
19-7267807-A-G
gnomAD v4:
19-7267807-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7267807A>G , CM000681.2:g.7267807A>G | GRCh38 |
| NC_000019.9:g.7267818A>G , CM000681.1:g.7267818A>G | GRCh37 |
| NC_000019.8:g.7218818A>G | NCBI36 |
| NG_008852.2:g.31194T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.190T>C MANE Select | ENSP00000303830.4:p.Leu64= | |
| ENST00000302850.9:c.190T>C | ENSP00000303830.4:p.Leu64= | |
| ENST00000341500.9:c.190T>C | ENSP00000342838.4:p.Leu64= | |
| ENST00000598216.1:n.165T>C | ||
| NM_000208.2:c.190T>C | NP_000199.2:p.Leu64= | |
| NM_000208.3:c.190T>C | NP_000199.2:p.Leu64= | |
| NM_001079817.1:c.190T>C | NP_001073285.1:p.Leu64= | |
| NM_001079817.2:c.190T>C | NP_001073285.1:p.Leu64= | |
| XM_011527988.1:c.268T>C | XP_011526290.1:p.Leu90= | |
| XM_011527989.1:c.268T>C | XP_011526291.1:p.Leu90= | |
| XM_011527988.2:c.190T>C | XP_011526290.2:p.Leu64= | |
| XM_011527989.3:c.190T>C | XP_011526291.2:p.Leu64= | |
| NM_000208.4:c.190T>C MANE Select | NP_000199.2:p.Leu64= | |
| NM_001079817.3:c.190T>C | NP_001073285.1:p.Leu64= |