Linked Data
ClinVar Variation Id:
2191431
ClinVar RCV Id:
RCV002632809
dbSNP Id:
rs1335246204
gnomAD v4:
17-63929295-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63929295A>G , CM000679.2:g.63929295A>G | GRCh38 |
| NC_000017.10:g.62006655A>G , CM000679.1:g.62006655A>G | GRCh37 |
| NC_000017.9:g.59360387A>G | NCBI36 |
| NG_007368.1:g.8050T>C , LRG_43:g.8050T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698624.1:n.618T>C | ||
| ENST00000006750.8:c.621T>C MANE Select | ENSP00000006750.4:p.Tyr207= | |
| ENST00000647774.1:c.242T>C | ||
| ENST00000006750.7:c.621T>C | ENSP00000006750.3:p.Tyr207= | |
| ENST00000349817.2:c.309T>C | ENSP00000245862.2:p.Tyr103= | |
| ENST00000392795.7:c.624T>C | ENSP00000376544.3:p.Tyr208= | |
| ENST00000559358.1:n.632T>C | ||
| NM_000626.2:c.621T>C | NP_000617.1:p.Tyr207= | |
| NM_001039933.1:c.624T>C , LRG_43t1:c.624T>C | NP_001035022.1:p.Tyr208= | |
| NM_021602.2:c.309T>C | NP_067613.1:p.Tyr103= | |
| XM_005257858.3:c.312T>C | XP_005257915.1:p.Tyr104= | |
| NM_000626.3:c.621T>C | NP_000617.1:p.Tyr207= | |
| NM_001039933.2:c.624T>C | NP_001035022.1:p.Tyr208= | |
| NM_001329050.1:c.312T>C | NP_001315979.1:p.Tyr104= | |
| NM_021602.3:c.309T>C | NP_067613.1:p.Tyr103= | |
| NM_000626.4:c.621T>C MANE Select | NP_000617.1:p.Tyr207= | |
| NM_001039933.3:c.624T>C | NP_001035022.1:p.Tyr208= | |
| NM_001329050.2:c.312T>C | NP_001315979.1:p.Tyr104= | |
| NM_021602.4:c.309T>C | NP_067613.1:p.Tyr103= |