Linked Data
dbSNP Id:
rs10913469
gnomAD v2:
1-177913519-T-C
gnomAD v3:
1-177944384-T-C
gnomAD v4:
1-177944384-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.177944384T>C , CM000663.2:g.177944384T>C | GRCh38 |
| NC_000001.10:g.177913519T>C , CM000663.1:g.177913519T>C | GRCh37 |
| NC_000001.9:g.176180142T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308284.11:c.1881+177A>G (SEC16B) MANE Select | ENSP00000308339.6:n.1881+177A>G | |
| ENST00000308284.10:c.1881+177A>G (SEC16B) | ENSP00000308339.6:n.1881+177A>G | |
| ENST00000327037.8:n.591+177A>G (SEC16B) | ||
| ENST00000528461.5:c.*868+177A>G (SEC16B) | ENSP00000475522.1:n.*868+177A>G | |
| NM_033127.2:c.1881+177A>G (SEC16B) | NP_149118.2:n.1881+177A>G | |
| NM_001356500.1:c.858+177A>G (SEC16B) | NP_001343429.1:n.858+177A>G | |
| NM_001356505.1:c.1881+177A>G (CRYZL2P-SEC16B) | NP_001343434.1:n.1881+177A>G | |
| NM_001356506.1:c.1881+177A>G (CRYZL2P-SEC16B) | NP_001343435.1:n.1881+177A>G | |
| NM_033127.3:c.1881+177A>G (SEC16B) | NP_149118.2:n.1881+177A>G | |
| NM_001356505.2:c.1881+177A>G (CRYZL2P-SEC16B) | NP_001343434.1:n.1881+177A>G | |
| NM_001356506.2:c.1881+177A>G (CRYZL2P-SEC16B) | NP_001343435.1:n.1881+177A>G | |
| NM_001390833.1:c.1881+177A>G (SEC16B) | NP_001377762.1:n.1881+177A>G | |
| NM_001390834.1:c.1884+177A>G (SEC16B) | NP_001377763.1:n.1884+177A>G | |
| NM_001390835.1:c.1884+177A>G (SEC16B) | NP_001377764.1:n.1884+177A>G | |
| NM_033127.4:c.1881+177A>G (SEC16B) MANE Select | NP_149118.2:n.1881+177A>G |