Linked Data
ClinVar Variation Id:
2173303
ClinVar RCV Id:
RCV002581843
dbSNP Id:
rs1161435216
gnomAD v2:
12-102179914-G-A
gnomAD v4:
12-101786136-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786136G>A , CM000674.2:g.101786136G>A | GRCh38 |
| NC_000012.11:g.102179914G>A , CM000674.1:g.102179914G>A | GRCh37 |
| NC_000012.10:g.100704045G>A | NCBI36 |
| NG_021243.1:g.49732C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.447C>T MANE Select | ENSP00000299314.7:p.Ile149= | |
| ENST00000299314.11:c.447C>T | ENSP00000299314.7:p.Ile149= | |
| ENST00000549940.5:c.447C>T | ENSP00000449150.1:p.Ile149= | |
| ENST00000550352.1:n.241C>T | ||
| ENST00000552681.1:c.81C>T | ENSP00000449217.1:p.Ile27= | |
| NM_024312.4:c.447C>T | NP_077288.2:p.Ile149= | |
| XM_006719593.2:c.447C>T | XP_006719656.1:p.Ile149= | |
| XM_011538731.1:c.366C>T | XP_011537033.1:p.Ile122= | |
| XM_006719593.3:c.447C>T | XP_006719656.1:p.Ile149= | |
| XM_011538731.2:c.366C>T | XP_011537033.1:p.Ile122= | |
| XM_017019961.1:c.231C>T | XP_016875450.1:p.Ile77= | |
| XM_017019962.2:c.-904C>T | XP_016875451.1:n.-904C>T | |
| NM_024312.5:c.447C>T MANE Select | NP_077288.2:p.Ile149= |