Linked Data
ClinVar Variation Id:
2467060
ClinVar RCV Id:
RCV003197005
dbSNP Id:
rs148011334
ExAC:
3:38888539 C / T
gnomAD v2:
3-38888539-C-T
gnomAD v3:
3-38847048-C-T
gnomAD v4:
3-38847048-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38847048C>T , CM000665.2:g.38847048C>T | GRCh38 |
| NC_000003.11:g.38888539C>T , CM000665.1:g.38888539C>T | GRCh37 |
| NC_000003.10:g.38863543C>T | NCBI36 |
| NG_033859.1:g.108514G>A | |
| NG_033859.2:g.209939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.5022G>A MANE Select | ENSP00000307599.3:p.Met1674Ile | |
| ENST00000668754.1:c.5022G>A | ENSP00000499569.1:p.Met1674Ile | |
| ENST00000675223.1:c.5101G>A | ENSP00000502481.1:n.5101G>A | |
| ENST00000675672.1:c.5076G>A | ENSP00000502446.1:n.5076G>A | |
| ENST00000675892.1:c.4842G>A | ENSP00000502318.1:p.Met1614Ile | |
| ENST00000676045.1:c.5066G>A | ENSP00000501685.1:n.5066G>A | |
| ENST00000676176.1:c.4641G>A | ENSP00000501891.1:p.Met1547Ile | |
| ENST00000302328.7:c.5022G>A | ENSP00000307599.3:p.Met1674Ile | |
| ENST00000456224.7:c.4908G>A | ENSP00000416757.3:p.Met1636Ile | |
| NM_001287223.1:c.5022G>A | NP_001274152.1:p.Met1674Ile | |
| NM_014139.2:c.5022G>A | NP_054858.2:p.Met1674Ile | |
| XM_011533320.1:c.5022G>A | XP_011531622.1:p.Met1674Ile | |
| XM_011533321.1:c.4359G>A | XP_011531623.1:p.Met1453Ile | |
| XM_011533322.1:c.3570G>A | XP_011531624.1:p.Met1190Ile | |
| NM_001349253.1:c.5022G>A | NP_001336182.1:p.Met1674Ile | |
| XM_011533321.2:c.4359G>A | XP_011531623.1:p.Met1453Ile | |
| XM_017005647.1:c.5397G>A | XP_016861136.1:p.Met1799Ile | |
| XM_017005648.1:c.4824G>A | XP_016861137.1:p.Met1608Ile | |
| XM_017005650.1:c.5022G>A | XP_016861139.1:p.Met1674Ile | |
| XM_017005651.1:c.4749G>A | XP_016861140.1:p.Met1583Ile | |
| XM_017005653.1:c.3426G>A | XP_016861142.1:p.Met1142Ile | |
| NM_001349253.2:c.5022G>A MANE Select | NP_001336182.1:p.Met1674Ile | |
| NM_014139.3:c.5022G>A | NP_054858.2:p.Met1674Ile |