Linked Data
ClinVar Variation Id:
375387
ClinVar RCV Id:
RCV002521494
dbSNP Id:
rs1057519447
gnomAD v2:
6-99374446-A-G
gnomAD v3:
6-98926570-A-G
gnomAD v4:
6-98926570-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98926570A>G , CM000668.2:g.98926570A>G | GRCh38 |
| NC_000006.11:g.99374446A>G , CM000668.1:g.99374446A>G | GRCh37 |
| NC_000006.10:g.99481167A>G | NCBI36 |
| NG_033903.1:g.26437T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369244.7:c.419T>C MANE Select | ENSP00000358247.1:p.Val140Ala | |
| ENST00000229971.2:c.419T>C | ENSP00000229971.1:p.Val140Ala | |
| ENST00000369244.6:c.419T>C | ENSP00000358247.1:p.Val140Ala | |
| NM_001278716.1:c.419T>C | NP_001265645.1:p.Val140Ala | |
| NM_012160.4:c.419T>C | NP_036292.2:p.Val140Ala | |
| NR_103836.1:n.810T>C | ||
| NR_103837.1:n.810T>C | ||
| XM_005266930.1:c.419T>C | XP_005266987.1:p.Val140Ala | |
| XM_011535748.1:c.419T>C | XP_011534050.1:p.Val140Ala | |
| XM_005266930.3:c.419T>C | XP_005266987.1:p.Val140Ala | |
| XM_011535748.3:c.419T>C | XP_011534050.1:p.Val140Ala | |
| XM_017010726.1:c.419T>C | XP_016866215.1:p.Val140Ala | |
| XM_017010727.2:c.419T>C | XP_016866216.1:p.Val140Ala | |
| XM_017010728.1:c.-384T>C | XP_016866217.1:n.-384T>C | |
| NM_001278716.2:c.419T>C MANE Select | NP_001265645.1:p.Val140Ala | |
| NR_103836.2:n.750T>C | ||
| NR_103837.2:n.750T>C | ||
| NM_012160.5:c.419T>C | NP_036292.2:p.Val140Ala |