Linked Data
dbSNP Id:
rs746490145
ExAC:
17:18047127 C / T
gnomAD v2:
17-18047127-C-T
gnomAD v4:
17-18143813-C-T
MyVariant Identifiers:
chr17:g.18047127C>T (hg19)
chr17:g.18047127_18047128delinsTG (hg19)
chr17:g.18143813C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18143813C>T , CM000679.2:g.18143813C>T | GRCh38 |
| NC_000017.10:g.18047127C>T , CM000679.1:g.18047127C>T | GRCh37 |
| NC_000017.9:g.17987852C>T | NCBI36 |
| NG_011634.1:g.40108C>T | |
| NG_011634.2:g.40108C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6046+17C>T MANE Select | ENSP00000495481.1:n.6046+17C>T | |
| ENST00000205890.9:c.6046+17C>T | ENSP00000205890.5:n.6046+17C>T | |
| ENST00000615845.4:c.6046+17C>T | ENSP00000481642.1:n.6046+17C>T | |
| NM_016239.3:c.6046+17C>T | NP_057323.3:n.6046+17C>T | |
| XM_011523917.1:c.5986+17C>T | XP_011522219.1:n.5986+17C>T | |
| XM_011523918.1:c.5986+17C>T | XP_011522220.1:n.5986+17C>T | |
| XM_011523919.1:c.5986+17C>T | XP_011522221.1:n.5986+17C>T | |
| XM_011523921.1:c.6040+17C>T | XP_011522223.1:n.6040+17C>T | |
| XR_934037.1:n.6645+17C>T | ||
| XR_934038.1:n.6645+17C>T | ||
| XM_011523918.2:c.5986+17C>T | XP_011522220.1:n.5986+17C>T | |
| XM_017024714.2:c.5986+17C>T | XP_016880203.1:n.5986+17C>T | |
| XM_017024715.2:c.6049+17C>T | XP_016880204.1:n.6049+17C>T | |
| XM_024450780.1:c.5986+17C>T | XP_024306548.1:n.5986+17C>T | |
| XM_024450781.1:c.5986+17C>T | XP_024306549.1:n.5986+17C>T | |
| NM_016239.4:c.6046+17C>T MANE Select | NP_057323.3:n.6046+17C>T |