Linked Data
ClinVar Variation Id:
954425
ClinVar RCV Id:
RCV002563681
dbSNP Id:
rs1388856266
gnomAD v2:
1-245027249-T-C
gnomAD v4:
1-244863947-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863947T>C , CM000663.2:g.244863947T>C | GRCh38 |
| NC_000001.10:g.245027249T>C , CM000663.1:g.245027249T>C | GRCh37 |
| NC_000001.9:g.243093872T>C | NCBI36 |
| NG_042184.1:g.5579A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.39A>G | ||
| ENST00000283179.14:c.361A>G | ENSP00000283179.10:p.Met121Val | |
| ENST00000444376.7:c.361A>G | ENSP00000393151.2:p.Met121Val | |
| ENST00000476241.2:n.546A>G | ||
| ENST00000638475.1:c.145A>G | ENSP00000491305.1:p.Met49Val | |
| ENST00000638952.1:n.592A>G | ||
| ENST00000640218.2:c.361A>G MANE Select | ENSP00000491215.1:p.Met121Val | |
| ENST00000640306.1:c.361A>G | ENSP00000491685.1:p.Met121Val | |
| ENST00000640440.1:c.61A>G | ENSP00000491263.1:p.Met21Val | |
| ENST00000649899.1:n.585A>G | ||
| ENST00000283179.13:c.361A>G | ENSP00000283179.9:p.Met121Val | |
| ENST00000444376.6:c.361A>G | ENSP00000393151.2:p.Met121Val | |
| ENST00000476241.1:n.545A>G | ||
| NM_004501.3:c.361A>G | NP_004492.2:p.Met121Val | |
| NM_031844.2:c.361A>G | NP_114032.2:p.Met121Val | |
| NM_031844.3:c.361A>G MANE Select | NP_114032.2:p.Met121Val |