Linked Data
ClinVar Variation Id:
702739
ClinVar RCV Id:
RCV000871955
dbSNP Id:
rs1383072937
gnomAD v2:
12-116460385-G-A
gnomAD v3:
12-116022580-G-A
gnomAD v4:
12-116022580-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116022580G>A , CM000674.2:g.116022580G>A | GRCh38 |
| NC_000012.11:g.116460385G>A , CM000674.1:g.116460385G>A | GRCh37 |
| NC_000012.10:g.114944768G>A | NCBI36 |
| NG_023366.1:g.259607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.501C>T MANE Select | ENSP00000281928.3:p.Phe167= | |
| ENST00000548743.2:c.471C>T | ENSP00000448553.2:p.Phe157= | |
| ENST00000647567.1:c.411C>T | ENSP00000497136.1:p.Phe137= | |
| ENST00000648737.1:n.265C>T | ||
| ENST00000650226.1:c.501C>T | ENSP00000496981.1:p.Phe167= | |
| ENST00000281928.7:c.501C>T | ENSP00000281928.3:p.Phe167= | |
| NM_015335.4:c.501C>T | NP_056150.1:p.Phe167= | |
| XM_011538080.1:c.501C>T | XP_011536382.1:p.Phe167= | |
| XM_011538081.1:c.501C>T | XP_011536383.1:p.Phe167= | |
| XM_011538082.1:c.471C>T | XP_011536384.1:p.Phe157= | |
| XM_011538080.2:c.501C>T | XP_011536382.1:p.Phe167= | |
| XM_011538081.2:c.501C>T | XP_011536383.1:p.Phe167= | |
| XM_011538082.2:c.471C>T | XP_011536384.1:p.Phe157= | |
| XM_017019090.1:c.501C>T | XP_016874579.1:p.Phe167= | |
| NM_015335.5:c.501C>T MANE Select | NP_056150.1:p.Phe167= |