Linked Data
ClinVar Variation Id:
1334161
dbSNP Id:
rs570552952
ExAC:
13:20763136 C / G
gnomAD v2:
13-20763136-C-G
gnomAD v3:
13-20188997-C-G
gnomAD v4:
13-20188997-C-G
ERepo:
CA6904231/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188997C>G , CM000675.2:g.20188997C>G | GRCh38 |
| NC_000013.10:g.20763136C>G , CM000675.1:g.20763136C>G | GRCh37 |
| NC_000013.9:g.19661136C>G | NCBI36 |
| NG_008358.1:g.8979G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.585G>C | ENSP00000372295.1:p.Met195Ile | |
| ENST00000382848.5:c.585G>C MANE Select | ENSP00000372299.4:p.Met195Ile | |
| ENST00000382844.1:c.585G>C | ENSP00000372295.1:p.Met195Ile | |
| ENST00000382848.4:c.585G>C | ENSP00000372299.4:p.Met195Ile | |
| NM_004004.5:c.585G>C | NP_003995.2:p.Met195Ile | |
| XM_011535049.1:c.585G>C | XP_011533351.1:p.Met195Ile | |
| XM_011535049.2:c.585G>C | XP_011533351.1:p.Met195Ile | |
| NM_004004.6:c.585G>C MANE Select | NP_003995.2:p.Met195Ile |