Linked Data
ClinVar Variation Id:
2494610
ClinVar RCV Id:
RCV003206587
dbSNP Id:
rs1224263799
gnomAD v2:
17-4858471-G-A
gnomAD v3:
17-4955176-G-A
gnomAD v4:
17-4955176-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955176G>A , CM000679.2:g.4955176G>A | GRCh38 |
| NC_000017.10:g.4858471G>A , CM000679.1:g.4858471G>A | GRCh37 |
| NC_000017.9:g.4799217G>A | NCBI36 |
| NG_012063.2:g.14086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.546G>A MANE Select | ENSP00000430055.2:p.Met182Ile | |
| ENST00000323997.10:c.546G>A | ENSP00000324105.6:p.Met182Ile | |
| ENST00000518175.1:c.546G>A | ENSP00000431087.1:p.Met182Ile | |
| ENST00000519584.5:c.417G>A | ENSP00000430636.1:p.Met139Ile | |
| ENST00000519602.5:c.546G>A | ENSP00000430055.1:p.Met182Ile | |
| ENST00000520221.5:c.546G>A | ENSP00000467444.1:p.Met182Ile | |
| ENST00000521659.5:c.*492G>A | ENSP00000430554.1:n.*492G>A | |
| ENST00000522301.5:c.546G>A | ENSP00000465697.1:p.Met182Ile | |
| NM_001193503.1:c.417G>A | NP_001180432.1:p.Met139Ile | |
| NM_001976.4:c.546G>A | NP_001967.3:p.Met182Ile | |
| NM_053013.3:c.546G>A | NP_443739.3:p.Met182Ile | |
| XM_005256521.2:c.573G>A | XP_005256578.1:p.Met191Ile | |
| XM_011523729.1:c.546G>A | XP_011522031.1:p.Met182Ile | |
| XM_017024346.2:c.546G>A | XP_016879835.1:p.Met182Ile | |
| NM_001193503.2:c.417G>A | NP_001180432.1:p.Met139Ile | |
| NM_001374523.1:c.546G>A | NP_001361452.1:p.Met182Ile | |
| NM_001374524.1:c.573G>A | NP_001361453.1:p.Met191Ile | |
| NM_001976.5:c.546G>A | NP_001967.3:p.Met182Ile | |
| NM_053013.4:c.546G>A MANE Select | NP_443739.3:p.Met182Ile |