Linked Data
ClinVar Variation Id:
2907865
ClinVar RCV Id:
RCV003745137
dbSNP Id:
rs782247216
ExAC:
3:53220037 C / T
gnomAD v2:
3-53220037-C-T
gnomAD v3:
3-53186021-C-T
gnomAD v4:
3-53186021-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53186021C>T , CM000665.2:g.53186021C>T | GRCh38 |
| NC_000003.11:g.53220037C>T , CM000665.1:g.53220037C>T | GRCh37 |
| NC_000003.10:g.53195077C>T | NCBI36 |
| NG_033864.1:g.29815C>T | |
| NG_033864.2:g.35013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697588.1:c.1080C>T | ENSP00000513355.1:p.Phe360= | |
| ENST00000697589.1:n.1084C>T | ||
| ENST00000330452.8:c.1080C>T MANE Select | ENSP00000331602.3:p.Phe360= | |
| ENST00000650739.1:c.1080C>T | ENSP00000498623.1:p.Phe360= | |
| ENST00000651505.1:c.821C>T | ||
| ENST00000652449.1:c.1080C>T | ENSP00000498400.1:p.Phe360= | |
| ENST00000654719.1:c.1080C>T | ENSP00000499558.1:p.Phe360= | |
| ENST00000330452.7:c.1080C>T | ENSP00000331602.3:p.Phe360= | |
| ENST00000394729.6:c.1080C>T | ENSP00000378217.2:p.Phe360= | |
| NM_001316327.1:c.1080C>T | NP_001303256.1:p.Phe360= | |
| NM_006254.3:c.1080C>T | NP_006245.2:p.Phe360= | |
| NM_212539.1:c.1080C>T | NP_997704.1:p.Phe360= | |
| XM_006713257.2:c.1128C>T | XP_006713320.1:p.Phe376= | |
| XM_006713259.2:c.1080C>T | XP_006713322.1:p.Phe360= | |
| XR_940474.1:n.1005-146C>T | ||
| NM_001354676.1:c.1137C>T | NP_001341605.1:p.Phe379= | |
| NM_001354678.1:c.1128C>T | NP_001341607.1:p.Phe376= | |
| NM_001354679.1:c.1080C>T | NP_001341608.1:p.Phe360= | |
| NM_001354680.1:c.1080C>T | NP_001341609.1:p.Phe360= | |
| XR_002959550.1:n.1058-146C>T | ||
| NM_006254.4:c.1080C>T MANE Select | NP_006245.2:p.Phe360= | |
| NM_001316327.2:c.1080C>T | NP_001303256.1:p.Phe360= | |
| NM_001354676.2:c.1137C>T | NP_001341605.1:p.Phe379= | |
| NM_001354678.2:c.1128C>T | NP_001341607.1:p.Phe376= | |
| NM_001354679.2:c.1080C>T | NP_001341608.1:p.Phe360= | |
| NM_001354680.2:c.1080C>T | NP_001341609.1:p.Phe360= | |
| NM_212539.2:c.1080C>T | NP_997704.1:p.Phe360= |