Linked Data
ClinVar Variation Id:
522155
dbSNP Id:
rs1226379186
gnomAD v2:
X-5811430-G-A
gnomAD v4:
X-5893389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.5893389G>A , CM000685.2:g.5893389G>A | GRCh38 |
| NC_000023.10:g.5811430G>A , CM000685.1:g.5811430G>A | GRCh37 |
| NC_000023.9:g.5821430G>A | NCBI36 |
| NG_008881.1:g.340277C>T | |
| NG_008881.2:g.340494C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381095.8:c.1879C>T MANE Select | ENSP00000370485.3:p.Arg627Ter | |
| ENST00000538097.6:c.1939C>T | ENSP00000439203.3:p.Arg647Ter | |
| ENST00000275857.10:c.1879C>T | ENSP00000275857.6:p.Arg627Ter | |
| ENST00000381092.1:c.1879C>T | ENSP00000370482.1:p.Arg627Ter | |
| ENST00000381093.6:c.1879C>T | ENSP00000370483.3:p.Arg627Ter | |
| ENST00000381095.7:c.1879C>T | ENSP00000370485.3:p.Arg627Ter | |
| ENST00000477079.1:n.277+9688C>T | ||
| ENST00000538097.5:c.1882C>T | ENSP00000439203.2:p.Arg628Ter | |
| NM_001282145.1:c.1879C>T | NP_001269074.1:p.Arg627Ter | |
| NM_001282146.1:c.1879C>T | NP_001269075.1:p.Arg627Ter | |
| NM_020742.3:c.1879C>T | NP_065793.1:p.Arg627Ter | |
| NM_181332.2:c.1879C>T | NP_851849.1:p.Arg627Ter | |
| XM_005274564.1:c.1939C>T | XP_005274621.1:p.Arg647Ter | |
| XM_005274565.1:c.1939C>T | XP_005274622.1:p.Arg647Ter | |
| XM_005274566.3:c.1939C>T | XP_005274623.1:p.Arg647Ter | |
| XM_006724504.2:c.1939C>T | XP_006724567.1:p.Arg647Ter | |
| XM_011545547.1:c.1939C>T | XP_011543849.1:p.Arg647Ter | |
| XM_011545548.1:c.1939C>T | XP_011543850.1:p.Arg647Ter | |
| XM_005274564.3:c.1939C>T | XP_005274621.1:p.Arg647Ter | |
| XM_005274565.2:c.1939C>T | XP_005274622.1:p.Arg647Ter | |
| XM_005274566.4:c.1939C>T | XP_005274623.1:p.Arg647Ter | |
| XM_006724504.3:c.1939C>T | XP_006724567.1:p.Arg647Ter | |
| XM_011545547.2:c.1939C>T | XP_011543849.1:p.Arg647Ter | |
| XM_011545548.2:c.1939C>T | XP_011543850.1:p.Arg647Ter | |
| XM_017029691.1:c.1879C>T | XP_016885180.1:p.Arg627Ter | |
| XM_017029692.1:c.1879C>T | XP_016885181.1:p.Arg627Ter | |
| XM_017029693.1:c.1879C>T | XP_016885182.1:p.Arg627Ter | |
| NM_181332.3:c.1879C>T MANE Select | NP_851849.1:p.Arg627Ter | |
| NM_001282145.2:c.1879C>T | NP_001269074.1:p.Arg627Ter | |
| NM_001282146.2:c.1879C>T | NP_001269075.1:p.Arg627Ter | |
| NM_020742.4:c.1879C>T | NP_065793.1:p.Arg627Ter |