Linked Data
ClinVar Variation Id:
1983291
ClinVar RCV Id:
RCV002770188
dbSNP Id:
rs752440976
ExAC:
17:4858540 C / T
gnomAD v2:
17-4858540-C-T
gnomAD v4:
17-4955245-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955245C>T , CM000679.2:g.4955245C>T | GRCh38 |
| NC_000017.10:g.4858540C>T , CM000679.1:g.4858540C>T | GRCh37 |
| NC_000017.9:g.4799286C>T | NCBI36 |
| NG_012063.2:g.14155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.615C>T MANE Select | ENSP00000430055.2:p.Thr205= | |
| ENST00000323997.10:c.615C>T | ENSP00000324105.6:p.Thr205= | |
| ENST00000518175.1:c.615C>T | ENSP00000431087.1:p.Thr205= | |
| ENST00000519584.5:c.486C>T | ENSP00000430636.1:p.Thr162= | |
| ENST00000519602.5:c.615C>T | ENSP00000430055.1:p.Thr205= | |
| ENST00000521659.5:c.*561C>T | ENSP00000430554.1:n.*561C>T | |
| ENST00000522301.5:c.615C>T | ENSP00000465697.1:p.Thr205= | |
| NM_001193503.1:c.486C>T | NP_001180432.1:p.Thr162= | |
| NM_001976.4:c.615C>T | NP_001967.3:p.Thr205= | |
| NM_053013.3:c.615C>T | NP_443739.3:p.Thr205= | |
| XM_005256521.2:c.642C>T | XP_005256578.1:p.Thr214= | |
| XM_011523729.1:c.615C>T | XP_011522031.1:p.Thr205= | |
| XM_017024346.2:c.615C>T | XP_016879835.1:p.Thr205= | |
| NM_001193503.2:c.486C>T | NP_001180432.1:p.Thr162= | |
| NM_001374523.1:c.615C>T | NP_001361452.1:p.Thr205= | |
| NM_001374524.1:c.642C>T | NP_001361453.1:p.Thr214= | |
| NM_001976.5:c.615C>T | NP_001967.3:p.Thr205= | |
| NM_053013.4:c.615C>T MANE Select | NP_443739.3:p.Thr205= |