Linked Data
ClinVar Variation Id:
1479826
ClinVar RCV Id:
RCV001991045
dbSNP Id:
rs570552952
ExAC:
13:20763136 C / A
gnomAD v2:
13-20763136-C-A
gnomAD v4:
13-20188997-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188997C>A , CM000675.2:g.20188997C>A | GRCh38 |
| NC_000013.10:g.20763136C>A , CM000675.1:g.20763136C>A | GRCh37 |
| NC_000013.9:g.19661136C>A | NCBI36 |
| NG_008358.1:g.8979G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.585G>T | ENSP00000372295.1:p.Met195Ile | |
| ENST00000382848.5:c.585G>T MANE Select | ENSP00000372299.4:p.Met195Ile | |
| ENST00000382844.1:c.585G>T | ENSP00000372295.1:p.Met195Ile | |
| ENST00000382848.4:c.585G>T | ENSP00000372299.4:p.Met195Ile | |
| NM_004004.5:c.585G>T | NP_003995.2:p.Met195Ile | |
| XM_011535049.1:c.585G>T | XP_011533351.1:p.Met195Ile | |
| XM_011535049.2:c.585G>T | XP_011533351.1:p.Met195Ile | |
| NM_004004.6:c.585G>T MANE Select | NP_003995.2:p.Met195Ile |