Linked Data
ClinVar Variation Id:
451928
ClinVar RCV Id:
RCV000519336
dbSNP Id:
rs940128206
gnomAD v2:
12-124212396-C-G
gnomAD v3:
12-123727849-C-G
gnomAD v4:
12-123727849-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123727849C>G , CM000674.2:g.123727849C>G | GRCh38 |
| NC_000012.11:g.124212396C>G , CM000674.1:g.124212396C>G | GRCh37 |
| NC_000012.10:g.122778349C>G | NCBI36 |
| NG_012743.1:g.20532C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330342.8:c.588C>G MANE Select | ENSP00000332247.2:p.Cys196Trp | |
| ENST00000540368.6:n.619C>G | ||
| ENST00000613625.5:c.588C>G | ENSP00000482236.1:p.Cys196Trp | |
| ENST00000674794.1:c.28C>G | ||
| ENST00000675344.1:c.588C>G | ENSP00000501953.1:p.Cys196Trp | |
| ENST00000330342.7:c.588C>G | ENSP00000332247.2:p.Cys196Trp | |
| ENST00000504192.2:c.198C>G | ENSP00000443441.1:p.Cys66Trp | |
| ENST00000540368.5:n.798C>G | ||
| ENST00000613625.4:c.588C>G | ENSP00000482236.1:p.Cys196Trp | |
| NM_012463.3:c.588C>G | NP_036595.2:p.Cys196Trp | |
| XM_005253563.1:c.588C>G | XP_005253620.1:p.Cys196Trp | |
| XM_006719317.2:c.75C>G | XP_006719380.1:p.Cys25Trp | |
| XR_429088.1:n.751C>G | ||
| XM_024448910.1:c.588C>G | XP_024304678.1:p.Cys196Trp | |
| XM_024448911.1:c.75C>G | XP_024304679.1:p.Cys25Trp | |
| NM_012463.4:c.588C>G MANE Select | NP_036595.2:p.Cys196Trp |