Linked Data
ClinVar Variation Id:
582555
ClinVar RCV Id:
RCV002534466
dbSNP Id:
rs1566692534
gnomAD v4:
11-112087951-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112087951A>G , CM000673.2:g.112087951A>G | GRCh38 |
| NC_000011.9:g.111958675A>G , CM000673.1:g.111958675A>G | GRCh37 |
| NC_000011.8:g.111463885A>G | NCBI36 |
| NG_012337.2:g.6105A>G | |
| NG_033145.1:g.3848T>C | |
| NG_012337.3:g.6105A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.147A>G | ENSP00000432946.2:p.Ile49Met | |
| ENST00000534010.2:c.147A>G | ENSP00000433202.2:p.Ile49Met | |
| ENST00000375549.8:c.147A>G MANE Select | ENSP00000364699.3:p.Ile49Met | |
| ENST00000528021.6:c.147A>G | ENSP00000432465.1:p.Ile49Met | |
| ENST00000640554.1:c.147A>G | ENSP00000491141.1:p.Ile49Met | |
| ENST00000375549.7:c.147A>G | ENSP00000364699.3:p.Ile49Met | |
| ENST00000525291.5:c.53-916A>G | ENSP00000436669.1:n.53-916A>G | |
| ENST00000525987.5:n.152A>G | ||
| ENST00000526592.5:c.147A>G | ENSP00000432005.1:p.Ile49Met | |
| ENST00000528021.5:c.147A>G | ENSP00000432465.1:p.Ile49Met | |
| ENST00000528048.5:c.147A>G | ENSP00000436217.1:p.Ile49Met | |
| ENST00000528182.5:c.147A>G | ENSP00000435475.1:p.Ile49Met | |
| ENST00000530923.5:c.137A>G | ||
| ENST00000531744.5:c.147A>G | ENSP00000456957.1:p.Ile49Met | |
| ENST00000532699.1:c.147A>G | ENSP00000456434.1:p.Ile49Met | |
| ENST00000614349.4:c.147A>G | ENSP00000480666.1:p.Ile49Met | |
| NM_001276503.1:c.147A>G | NP_001263432.1:p.Ile49Met | |
| NM_001276504.1:c.53-916A>G | NP_001263433.1:n.53-916A>G | |
| NM_001276506.1:c.147A>G | NP_001263435.1:p.Ile49Met | |
| NM_003002.3:c.147A>G | NP_002993.1:p.Ile49Met | |
| NR_077060.1:n.231A>G | ||
| NM_003002.4:c.147A>G MANE Select | NP_002993.1:p.Ile49Met | |
| NM_001276503.2:c.147A>G | NP_001263432.1:p.Ile49Met | |
| NM_001276504.2:c.53-916A>G | NP_001263433.1:n.53-916A>G | |
| NM_001276506.2:c.147A>G | NP_001263435.1:p.Ile49Met | |
| NR_077060.2:n.182A>G |