Linked Data
ClinVar Variation Id:
2968169
ClinVar RCV Id:
RCV003821295
dbSNP Id:
rs981376969
gnomAD v2:
2-71357314-G-A
gnomAD v3:
2-71130184-G-A
gnomAD v4:
2-71130184-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71130184G>A , CM000664.2:g.71130184G>A | GRCh38 |
| NC_000002.11:g.71357314G>A , CM000664.1:g.71357314G>A | GRCh37 |
| NC_000002.10:g.71210822G>A | NCBI36 |
| NG_008977.1:g.5081C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.36C>T MANE Select | ENSP00000244217.5:p.Ala12= | |
| ENST00000244217.5:c.36C>T | ENSP00000244217.5:p.Ala12= | |
| ENST00000486135.1:c.-351C>T | ENSP00000441569.1:n.-351C>T | |
| ENST00000494660.6:c.-713C>T | ENSP00000437361.1:n.-713C>T | |
| NM_032601.3:c.36C>T | NP_115990.3:p.Ala12= | |
| XM_005264613.2:c.36C>T | XP_005264670.1:p.Ala12= | |
| XR_939729.1:n.105C>T | ||
| XR_939729.2:n.105C>T | ||
| NM_032601.4:c.36C>T MANE Select | NP_115990.3:p.Ala12= |