Linked Data
dbSNP Id:
rs6125962
gnomAD v2:
20-36341062-T-C
gnomAD v3:
20-37712660-T-C
gnomAD v4:
20-37712660-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.37712660T>C , CM000682.2:g.37712660T>C | GRCh38 |
| NC_000020.10:g.36341062T>C , CM000682.1:g.36341062T>C | GRCh37 |
| NC_000020.9:g.35774476T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361383.11:c.30+18508T>C MANE Select | ENSP00000355050.6:n.30+18508T>C | |
| ENST00000361383.10:c.30+18508T>C | ENSP00000355050.6:n.30+18508T>C | |
| ENST00000405275.6:c.-152-14642T>C | ENSP00000384355.2:n.-152-14642T>C | |
| ENST00000447935.3:c.-52+17627T>C | ENSP00000394464.1:n.-52+17627T>C | |
| ENST00000621317.4:c.30+18508T>C | ENSP00000478532.1:n.30+18508T>C | |
| ENST00000628103.2:c.-152-14642T>C | ENSP00000487198.1:n.-152-14642T>C | |
| NM_001281495.1:c.-152-14642T>C | NP_001268424.1:n.-152-14642T>C | |
| NM_030877.4:c.30+18508T>C | NP_110517.2:n.30+18508T>C | |
| XM_024451947.1:c.-52+17627T>C | XP_024307715.1:n.-52+17627T>C | |
| NM_030877.5:c.30+18508T>C MANE Select | NP_110517.2:n.30+18508T>C | |
| NM_001281495.2:c.-152-14642T>C | NP_001268424.1:n.-152-14642T>C |