Linked Data
ClinVar Variation Id:
1510421
ClinVar RCV Id:
RCV002011757
dbSNP Id:
rs151327900
ExAC:
17:42990683 A / G
gnomAD v2:
17-42990683-A-G
gnomAD v3:
17-44913315-A-G
gnomAD v4:
17-44913315-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44913315A>G , CM000679.2:g.44913315A>G | GRCh38 |
| NC_000017.10:g.42990683A>G , CM000679.1:g.42990683A>G | GRCh37 |
| NC_000017.9:g.40346209A>G | NCBI36 |
| NG_008401.1:g.7232T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.734T>C | ENSP00000253408.5:p.Met245Thr | |
| ENST00000435360.8:c.734T>C | ENSP00000403962.1:p.Met245Thr | |
| ENST00000253408.10:c.734T>C | ENSP00000253408.5:p.Met245Thr | |
| ENST00000435360.7:c.734T>C | ENSP00000403962.1:p.Met245Thr | |
| ENST00000586127.6:n.1263T>C | ||
| ENST00000586793.6:c.734T>C | ENSP00000468500.2:p.Met245Thr | |
| ENST00000587997.6:n.210T>C | ||
| ENST00000588735.3:c.734T>C MANE Select | ENSP00000466598.2:p.Met245Thr | |
| ENST00000591327.2:n.1888T>C | ||
| ENST00000592320.6:c.618+413T>C | ENSP00000465320.1:n.618+413T>C | |
| ENST00000638281.1:c.734T>C | ENSP00000491088.1:p.Met245Thr | |
| ENST00000638618.1:c.389T>C | ENSP00000492832.1:p.Met130Thr | |
| ENST00000639277.1:c.734T>C | ENSP00000492432.1:p.Met245Thr | |
| ENST00000640552.1:n.748T>C | ||
| ENST00000253408.9:c.734T>C | ENSP00000253408.4:p.Met245Thr | |
| ENST00000376990.8:c.*133T>C | ENSP00000366189.4:n.*133T>C | |
| ENST00000435360.6:c.734T>C | ENSP00000403962.1:p.Met245Thr | |
| ENST00000585728.5:c.*378T>C | ENSP00000465208.1:n.*378T>C | |
| ENST00000586793.5:c.734T>C | ENSP00000468500.1:p.Met245Thr | |
| ENST00000587997.5:c.210T>C | ||
| ENST00000588316.1:c.638T>C | ENSP00000465629.1:p.Met213Thr | |
| ENST00000588735.1:c.82+2090T>C | ENSP00000466598.1:n.82+2090T>C | |
| ENST00000588957.5:c.2T>C | ENSP00000465565.1:p.Met1Thr | |
| ENST00000590922.1:n.384T>C | ||
| ENST00000592320.5:c.618+413T>C | ENSP00000465320.1:n.618+413T>C | |
| NM_001131019.2:c.734T>C | NP_001124491.1:p.Met245Thr | |
| NM_001242376.1:c.734T>C | NP_001229305.1:p.Met245Thr | |
| NM_002055.4:c.734T>C | NP_002046.1:p.Met245Thr | |
| NM_001363846.1:c.734T>C | NP_001350775.1:p.Met245Thr | |
| XM_024450690.1:c.938T>C | XP_024306458.1:p.Met313Thr | |
| XM_024450691.1:c.938T>C | XP_024306459.1:p.Met313Thr | |
| XM_024450692.1:c.938T>C | XP_024306460.1:p.Met313Thr | |
| XM_024450693.1:c.938T>C | XP_024306461.1:p.Met313Thr | |
| NM_002055.5:c.734T>C MANE Select | NP_002046.1:p.Met245Thr | |
| NM_001131019.3:c.734T>C | NP_001124491.1:p.Met245Thr | |
| NM_001242376.2:c.734T>C | NP_001229305.1:p.Met245Thr | |
| NM_001242376.3:c.734T>C | NP_001229305.1:p.Met245Thr | |
| NM_001363846.2:c.734T>C | NP_001350775.1:p.Met245Thr |