Linked Data
dbSNP Id:
rs1263508043
gnomAD v3:
17-18145959-C-T
gnomAD v4:
17-18145959-C-T
COSMIC:
COSM5385812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18145959C>T , CM000679.2:g.18145959C>T | GRCh38 |
| NC_000017.10:g.18049273C>T , CM000679.1:g.18049273C>T | GRCh37 |
| NC_000017.9:g.17989998C>T | NCBI36 |
| NG_011634.1:g.42254C>T | |
| NG_011634.2:g.42254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6361C>T MANE Select | ENSP00000495481.1:p.Pro2121Ser | |
| ENST00000205890.9:c.6361C>T | ENSP00000205890.5:p.Pro2121Ser | |
| ENST00000615845.4:c.6361C>T | ENSP00000481642.1:p.Pro2121Ser | |
| NM_016239.3:c.6361C>T | NP_057323.3:p.Pro2121Ser | |
| XM_011523917.1:c.6301C>T | XP_011522219.1:p.Pro2101Ser | |
| XM_011523918.1:c.6301C>T | XP_011522220.1:p.Pro2101Ser | |
| XM_011523921.1:c.6355C>T | XP_011522223.1:p.Pro2119Ser | |
| XR_934037.1:n.6960C>T | ||
| XR_934038.1:n.6960C>T | ||
| XM_011523918.2:c.6301C>T | XP_011522220.1:p.Pro2101Ser | |
| XM_017024714.2:c.6301C>T | XP_016880203.1:p.Pro2101Ser | |
| XM_017024715.2:c.6364C>T | XP_016880204.1:p.Pro2122Ser | |
| XM_024450781.1:c.6213+1367C>T | XP_024306549.1:n.6213+1367C>T | |
| NM_016239.4:c.6361C>T MANE Select | NP_057323.3:p.Pro2121Ser |