Linked Data
dbSNP Id:
rs1297596256
gnomAD v2:
2-206988022-G-A
gnomAD v3:
2-206123298-G-A
gnomAD v4:
2-206123298-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206123298G>A , CM000664.2:g.206123298G>A | GRCh38 |
| NC_000002.11:g.206988022G>A , CM000664.1:g.206988022G>A | GRCh37 |
| NC_000002.10:g.206696267G>A | NCBI36 |
| NG_009248.1:g.41166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.*887C>T MANE Select | ENSP00000233190.5:n.*887C>T | |
| ENST00000233190.10:c.*887C>T | ENSP00000233190.5:n.*887C>T | |
| ENST00000455934.6:c.*887C>T | ENSP00000392709.2:n.*887C>T | |
| NM_001199981.1:c.*887C>T | NP_001186910.1:n.*887C>T | |
| NM_001199982.1:c.*887C>T | NP_001186911.1:n.*887C>T | |
| NM_001199983.1:c.*887C>T | NP_001186912.1:n.*887C>T | |
| NM_001199984.1:c.*887C>T | NP_001186913.1:n.*887C>T | |
| NM_005006.6:c.*887C>T | NP_004997.4:n.*887C>T | |
| NM_001199981.2:c.*887C>T | NP_001186910.1:n.*887C>T | |
| NM_001199982.2:c.*887C>T | NP_001186911.1:n.*887C>T | |
| NM_001199983.2:c.*887C>T | NP_001186912.1:n.*887C>T | |
| NM_005006.7:c.*887C>T MANE Select | NP_004997.4:n.*887C>T | |
| NM_001199984.2:c.*887C>T | NP_001186913.1:n.*887C>T |