Linked Data
ClinVar Variation Id:
492849
dbSNP Id:
rs777223697
ExAC:
3:57232830 A / T
gnomAD v2:
3-57232830-A-T
gnomAD v4:
3-57198802-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.57198802A>T , CM000665.2:g.57198802A>T | GRCh38 |
| NC_000003.11:g.57232830A>T , CM000665.1:g.57232830A>T | GRCh37 |
| NC_000003.10:g.57207870A>T | NCBI36 |
| NG_008242.1:g.6451T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295934.8:c.308T>A MANE Select | ENSP00000295934.3:p.Leu103Ter | |
| ENST00000647958.1:c.308T>A | ENSP00000498190.1:p.Leu103Ter | |
| ENST00000295934.7:c.308T>A | ENSP00000295934.3:p.Leu103Ter | |
| ENST00000473921.2:c.308T>A | ENSP00000418918.1:p.Leu103Ter | |
| ENST00000495160.2:c.308T>A | ENSP00000419615.2:p.Leu103Ter | |
| NM_003865.2:c.308T>A | NP_003856.1:p.Leu103Ter | |
| XM_005265526.3:c.308T>A | XP_005265583.1:p.Leu103Ter | |
| XM_006713379.2:c.308T>A | XP_006713442.1:p.Leu103Ter | |
| XM_011534204.1:c.308T>A | XP_011532506.1:p.Leu103Ter | |
| XM_011534205.1:c.308T>A | XP_011532507.1:p.Leu103Ter | |
| XM_005265526.4:c.308T>A | XP_005265583.1:p.Leu103Ter | |
| XM_011534204.2:c.308T>A | XP_011532506.1:p.Leu103Ter | |
| XM_011534205.2:c.308T>A | XP_011532507.1:p.Leu103Ter | |
| XM_017007421.1:c.308T>A | XP_016862910.1:p.Leu103Ter | |
| XM_024453809.1:c.308T>A | XP_024309577.1:p.Leu103Ter | |
| NM_003865.3:c.308T>A MANE Select | NP_003856.1:p.Leu103Ter | |
| NM_001376058.1:c.308T>A | NP_001362987.1:p.Leu103Ter | |
| NM_001376059.1:c.308T>A | NP_001362988.1:p.Leu103Ter | |
| NM_001376060.1:c.308T>A | NP_001362989.1:p.Leu103Ter | |
| NM_001376061.1:c.308T>A | NP_001362990.1:p.Leu103Ter | |
| NR_164757.1:n.851-310T>A |