Linked Data
ClinVar Variation Id:
1176560
dbSNP Id:
rs751508756
ExAC:
8:72936074 T / C
gnomAD v2:
8-72936074-T-C
gnomAD v3:
8-72023839-T-C
gnomAD v4:
8-72023839-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.72023839T>C , CM000670.2:g.72023839T>C | GRCh38 |
| NC_000008.10:g.72936074T>C , CM000670.1:g.72936074T>C | GRCh37 |
| NC_000008.9:g.73098628T>C | NCBI36 |
| NG_033890.1:g.56746A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262209.5:c.3124A>G (TRPA1) MANE Select | ENSP00000262209.4:p.Met1042Val | |
| ENST00000262209.4:c.3124A>G (TRPA1) | ENSP00000262209.4:p.Met1042Val | |
| ENST00000520596.2:n.32A>G (TRPA1) | ||
| ENST00000523582.5:c.2680A>G (TRPA1) | ENSP00000428151.1:p.Met894Val | |
| NM_007332.2:c.3124A>G (TRPA1) | NP_015628.2:p.Met1042Val | |
| NR_033651.1:n.434-28700T>C (MSC-AS1) | ||
| NR_033652.1:n.1029-28700T>C (MSC-AS1) | ||
| XM_011517624.1:c.3199A>G (TRPA1) | XP_011515926.1:p.Met1067Val | |
| XM_011517625.1:c.3124A>G (TRPA1) | XP_011515927.1:p.Met1042Val | |
| XM_011517624.2:c.3199A>G (TRPA1) | XP_011515926.1:p.Met1067Val | |
| XM_011517625.2:c.3124A>G (TRPA1) | XP_011515927.1:p.Met1042Val | |
| XM_017013946.1:c.3124A>G (TRPA1) | XP_016869435.1:p.Met1042Val | |
| NM_007332.3:c.3124A>G (TRPA1) MANE Select | NP_015628.2:p.Met1042Val |