Linked Data
ClinVar Variation Id:
39521
ClinVar RCV Id:
RCV000032719
dbSNP Id:
rs138568622
ExAC:
14:39509974 T / C
gnomAD v2:
14-39509974-T-C
gnomAD v3:
14-39040770-T-C
gnomAD v4:
14-39040770-T-C
PubMed:
PMID:21039434
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.39040770T>C , CM000676.2:g.39040770T>C | GRCh38 |
| NC_000014.8:g.39509974T>C , CM000676.1:g.39509974T>C | GRCh37 |
| NC_000014.7:g.38579725T>C | NCBI36 |
| NG_012157.1:g.67464A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307712.11:c.2104A>G MANE Select | ENSP00000306881.6:p.Met702Val | |
| ENST00000307712.10:c.2104A>G | ENSP00000306881.6:p.Met702Val | |
| ENST00000537403.5:c.1498A>G | ENSP00000444193.1:p.Met500Val | |
| ENST00000545328.6:c.2017A>G | ENSP00000445393.2:p.Met673Val | |
| ENST00000554615.1:n.664A>G | ||
| ENST00000555363.1:n.475A>G | ||
| NM_006364.2:c.2104A>G | NP_006355.2:p.Met702Val | |
| XM_005267262.1:c.2176A>G | XP_005267319.1:p.Met726Val | |
| XM_011536355.1:c.2176A>G | XP_011534657.1:p.Met726Val | |
| NM_006364.3:c.2104A>G | NP_006355.2:p.Met702Val | |
| XM_005267262.2:c.2176A>G | XP_005267319.1:p.Met726Val | |
| XM_011536355.3:c.2176A>G | XP_011534657.1:p.Met726Val | |
| XM_017020928.2:c.2104A>G | XP_016876417.1:p.Met702Val | |
| NM_006364.4:c.2104A>G MANE Select | NP_006355.2:p.Met702Val |