Linked Data
ClinVar Variation Id:
1310030
ClinVar RCV Id:
RCV001757098
dbSNP Id:
rs935188053
gnomAD v2:
12-116450621-C-T
gnomAD v4:
12-116012816-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116012816C>T , CM000674.2:g.116012816C>T | GRCh38 |
| NC_000012.11:g.116450621C>T , CM000674.1:g.116450621C>T | GRCh37 |
| NC_000012.10:g.114935004C>T | NCBI36 |
| NG_023366.1:g.269371G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.1261G>A MANE Select | ENSP00000281928.3:p.Val421Ile | |
| ENST00000548743.2:c.1231G>A | ENSP00000448553.2:p.Val411Ile | |
| ENST00000549786.2:c.689G>A | ||
| ENST00000647567.1:c.1168G>A | ENSP00000497136.1:p.Val390Ile | |
| ENST00000648737.1:n.1025G>A | ||
| ENST00000650226.1:c.1261G>A | ENSP00000496981.1:p.Val421Ile | |
| ENST00000281928.7:c.1261G>A | ENSP00000281928.3:p.Val421Ile | |
| NM_015335.4:c.1261G>A | NP_056150.1:p.Val421Ile | |
| XM_011538080.1:c.1261G>A | XP_011536382.1:p.Val421Ile | |
| XM_011538081.1:c.1261G>A | XP_011536383.1:p.Val421Ile | |
| XM_011538082.1:c.1231G>A | XP_011536384.1:p.Val411Ile | |
| XM_011538080.2:c.1261G>A | XP_011536382.1:p.Val421Ile | |
| XM_011538081.2:c.1261G>A | XP_011536383.1:p.Val421Ile | |
| XM_011538082.2:c.1231G>A | XP_011536384.1:p.Val411Ile | |
| XM_017019090.1:c.1261G>A | XP_016874579.1:p.Val421Ile | |
| NM_015335.5:c.1261G>A MANE Select | NP_056150.1:p.Val421Ile |