Linked Data
ClinVar Variation Id:
2176736
ClinVar RCV Id:
RCV002610269
dbSNP Id:
rs1435353438
gnomAD v2:
19-45855819-A-G
gnomAD v4:
19-45352561-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352561A>G , CM000681.2:g.45352561A>G | GRCh38 |
| NC_000019.9:g.45855819A>G , CM000681.1:g.45855819A>G | GRCh37 |
| NC_000019.8:g.50547659A>G | NCBI36 |
| NG_007067.2:g.23027T>C , LRG_461:g.23027T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1991T>C | ENSP00000375808.4:p.Val664Ala | |
| ENST00000682414.1:c.1991T>C | ENSP00000507019.1:p.Val664Ala | |
| ENST00000682508.1:n.2020T>C | ||
| ENST00000684218.1:c.*1249T>C | ENSP00000507804.1:n.*1249T>C | |
| ENST00000684264.1:n.1547T>C | ||
| ENST00000684407.1:c.1868T>C | ENSP00000507775.1:p.Val623Ala | |
| ENST00000684458.1:c.*477T>C | ENSP00000508260.1:n.*477T>C | |
| ENST00000684468.1:n.1703T>C | ||
| ENST00000391945.10:c.1991T>C MANE Select | ENSP00000375809.4:p.Val664Ala | |
| ENST00000646507.1:n.2088T>C | ||
| ENST00000391941.6:c.1919T>C | ENSP00000375805.2:p.Val640Ala | |
| ENST00000391942.6:n.1162T>C | ||
| ENST00000391944.7:c.1757T>C | ENSP00000375808.3:p.Val586Ala | |
| ENST00000391945.8:c.1991T>C | ENSP00000375809.3:p.Val664Ala | |
| ENST00000588652.5:n.2079T>C | ||
| NM_000400.3:c.1991T>C , LRG_461t1:c.1991T>C | NP_000391.1:p.Val664Ala | |
| XM_011526611.1:c.1913T>C | XP_011524913.1:p.Val638Ala | |
| XM_011526611.2:c.1913T>C | XP_011524913.1:p.Val638Ala | |
| XM_017026467.1:c.1868T>C | XP_016881956.1:p.Val623Ala | |
| XR_001753633.2:n.2038T>C | ||
| XR_001753634.2:n.1974T>C | ||
| NM_000400.4:c.1991T>C MANE Select | NP_000391.1:p.Val664Ala |