Linked Data
ClinVar Variation Id:
323218
ClinVar RCV Id:
RCV000323761
dbSNP Id:
rs1053004
gnomAD v2:
17-40466092-G-A
gnomAD v3:
17-42314074-G-A
gnomAD v4:
17-42314074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42314074G>A , CM000679.2:g.42314074G>A | GRCh38 |
| NC_000017.10:g.40466092G>A , CM000679.1:g.40466092G>A | GRCh37 |
| NC_000017.9:g.37719618G>A | NCBI36 |
| NG_007370.1:g.79422C>T , LRG_112:g.79422C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713583.1:c.*1671C>T | ENSP00000518875.1:n.*1671C>T | |
| ENST00000264657.10:c.*1671C>T MANE Select | ENSP00000264657.4:n.*1671C>T | |
| ENST00000676636.1:c.*2323C>T | ENSP00000504255.1:n.*2323C>T | |
| ENST00000677030.1:c.*1765C>T | ENSP00000503662.1:n.*1765C>T | |
| ENST00000677271.1:c.*2322C>T | ENSP00000503912.1:n.*2322C>T | |
| ENST00000677421.1:c.*1671C>T | ENSP00000503599.1:n.*1671C>T | |
| ENST00000677442.1:c.*1671C>T | ENSP00000504350.1:n.*1671C>T | |
| ENST00000677479.1:c.*1765C>T | ENSP00000503559.1:n.*1765C>T | |
| ENST00000677723.1:c.*1671C>T | ENSP00000503574.1:n.*1671C>T | |
| ENST00000677820.1:c.*2326C>T | ENSP00000504715.1:n.*2326C>T | |
| ENST00000678043.1:c.*1671C>T | ENSP00000503872.1:n.*1671C>T | |
| ENST00000678044.1:c.*1671C>T | ENSP00000503102.1:n.*1671C>T | |
| ENST00000678048.1:c.*1671C>T | ENSP00000503799.1:n.*1671C>T | |
| ENST00000678445.1:c.*2376C>T | ENSP00000503105.1:n.*2376C>T | |
| ENST00000678572.1:c.*1765C>T | ENSP00000504182.1:n.*1765C>T | |
| ENST00000678674.1:c.*1671C>T | ENSP00000504062.1:n.*1671C>T | |
| ENST00000678764.1:n.4401C>T | ||
| ENST00000678792.1:c.*1671C>T | ENSP00000504435.1:n.*1671C>T | |
| ENST00000678827.1:c.*1765C>T | ENSP00000503634.1:n.*1765C>T | |
| ENST00000678905.1:c.*1765C>T | ENSP00000503333.1:n.*1765C>T | |
| ENST00000678906.1:c.*1671C>T | ENSP00000504184.1:n.*1671C>T | |
| ENST00000678913.1:c.*1671C>T | ENSP00000504609.1:n.*1671C>T | |
| ENST00000678960.1:c.*1671C>T | ENSP00000503181.1:n.*1671C>T | |
| ENST00000679014.1:c.*1671C>T | ENSP00000503237.1:n.*1671C>T | |
| ENST00000679166.1:c.*1671C>T | ENSP00000503308.1:n.*1671C>T | |
| ENST00000679185.1:c.*1765C>T | ENSP00000503332.1:n.*1765C>T | |
| ENST00000679231.1:n.4227C>T | ||
| ENST00000264657.9:c.*1671C>T | ENSP00000264657.4:n.*1671C>T | |
| NM_003150.3:c.*1671C>T | NP_003141.2:n.*1671C>T | |
| NM_139276.2:c.*1671C>T , LRG_112t1:c.*1671C>T | NP_644805.1:n.*1671C>T | |
| NM_213662.1:c.*1765C>T | NP_998827.1:n.*1765C>T | |
| XM_005257616.2:c.*1671C>T | XP_005257673.2:n.*1671C>T | |
| XM_005257617.2:c.*1671C>T | XP_005257674.2:n.*1671C>T | |
| XM_011525145.1:c.*1671C>T | XP_011523447.1:n.*1671C>T | |
| XM_011525146.1:c.*1765C>T | XP_011523448.1:n.*1765C>T | |
| XM_011525145.3:c.*1671C>T | XP_011523447.1:n.*1671C>T | |
| XM_011525146.3:c.*1765C>T | XP_011523448.1:n.*1765C>T | |
| XM_017024973.2:c.*1765C>T | XP_016880462.1:n.*1765C>T | |
| NM_001369512.1:c.*1671C>T | NP_001356441.1:n.*1671C>T | |
| NM_001369513.1:c.*1671C>T | NP_001356442.1:n.*1671C>T | |
| NM_001369514.1:c.*1671C>T | NP_001356443.1:n.*1671C>T | |
| NM_001369516.1:c.*1671C>T | NP_001356445.1:n.*1671C>T | |
| NM_001369517.1:c.*1765C>T | NP_001356446.1:n.*1765C>T | |
| NM_001369518.1:c.*1765C>T | NP_001356447.1:n.*1765C>T | |
| NM_001369519.1:c.*1765C>T | NP_001356448.1:n.*1765C>T | |
| NM_001369520.1:c.*1765C>T | NP_001356449.1:n.*1765C>T | |
| NM_003150.4:c.*1671C>T | NP_003141.2:n.*1671C>T | |
| NM_213662.2:c.*1765C>T | NP_998827.1:n.*1765C>T | |
| NM_001384984.1:c.*1671C>T | NP_001371913.1:n.*1671C>T | |
| NM_001384985.1:c.*1671C>T | NP_001371914.1:n.*1671C>T | |
| NM_001384986.1:c.*1765C>T | NP_001371915.1:n.*1765C>T | |
| NM_001384987.1:c.*1671C>T | NP_001371916.1:n.*1671C>T | |
| NM_001384988.1:c.*1671C>T | NP_001371917.1:n.*1671C>T | |
| NM_001384989.1:c.*1671C>T | NP_001371918.1:n.*1671C>T | |
| NM_001384990.1:c.*1765C>T | NP_001371919.1:n.*1765C>T | |
| NM_001384991.1:c.*1671C>T | NP_001371920.1:n.*1671C>T | |
| NM_001384992.1:c.*1671C>T | NP_001371921.1:n.*1671C>T | |
| NM_001384993.1:c.*1671C>T | NP_001371922.1:n.*1671C>T | |
| NM_139276.3:c.*1671C>T MANE Select | NP_644805.1:n.*1671C>T |