Linked Data
ClinVar Variation Id:
478330
ClinVar RCV Id:
RCV000551316
dbSNP Id:
rs115658799
ExAC:
21:34038865 G / C
gnomAD v2:
21-34038865-G-C
gnomAD v3:
21-32666555-G-C
gnomAD v4:
21-32666555-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32666555G>C , CM000683.2:g.32666555G>C | GRCh38 |
| NC_000021.8:g.34038865G>C , CM000683.1:g.34038865G>C | GRCh37 |
| NC_000021.7:g.32960736G>C | NCBI36 |
| NG_030017.1:g.66487C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382499.7:c.1947C>G | ENSP00000371939.2:p.Leu649= | |
| ENST00000433931.7:c.1947C>G | ENSP00000409667.2:p.Leu649= | |
| ENST00000630077.3:c.1815C>G | ENSP00000487560.1:p.Leu605= | |
| ENST00000674204.1:c.1830C>G | ENSP00000501504.1:p.Leu610= | |
| ENST00000674308.1:c.1830C>G | ENSP00000501426.1:p.Leu610= | |
| ENST00000674351.1:c.1830C>G MANE Select | ENSP00000501530.1:p.Leu610= | |
| ENST00000357345.7:c.1830C>G | ENSP00000349903.3:p.Leu610= | |
| ENST00000382491.7:c.1815C>G | ENSP00000371931.4:p.Leu605= | |
| ENST00000382499.6:c.1947C>G | ENSP00000371939.2:p.Leu649= | |
| ENST00000429236.5:c.1815C>G | ENSP00000413649.1:p.Leu605= | |
| ENST00000433931.6:c.1947C>G | ENSP00000409667.2:p.Leu649= | |
| ENST00000630077.2:c.1815C>G | ENSP00000487560.1:p.Leu605= | |
| NM_001160302.1:c.1830C>G | NP_001153774.1:p.Leu610= | |
| NM_001160306.1:c.1815C>G | NP_001153778.1:p.Leu605= | |
| NM_003895.3:c.1947C>G | NP_003886.3:p.Leu649= | |
| NM_203446.2:c.1947C>G | NP_982271.2:p.Leu649= | |
| XM_017028494.1:c.1830C>G | XP_016883983.1:p.Leu610= | |
| XM_017028495.2:c.1932C>G | XP_016883984.1:p.Leu644= | |
| XM_017028496.1:c.1830C>G | XP_016883985.1:p.Leu610= | |
| XM_017028497.2:c.1947C>G | XP_016883986.1:p.Leu649= | |
| XM_017028498.1:c.1830C>G | XP_016883987.1:p.Leu610= | |
| XM_017028499.2:c.1932C>G | XP_016883988.1:p.Leu644= | |
| XM_017028500.1:c.1830C>G | XP_016883989.1:p.Leu610= | |
| XM_017028501.1:c.1830C>G | XP_016883990.1:p.Leu610= | |
| XM_017028502.1:c.1830C>G | XP_016883991.1:p.Leu610= | |
| XM_017028503.1:c.1830C>G | XP_016883992.1:p.Leu610= | |
| XM_017028504.1:c.1830C>G | XP_016883993.1:p.Leu610= | |
| XM_017028505.2:c.1932C>G | XP_016883994.1:p.Leu644= | |
| NM_001160306.2:c.1815C>G | NP_001153778.1:p.Leu605= | |
| NM_203446.3:c.1830C>G MANE Select | NP_982271.3:p.Leu610= |