Linked Data
dbSNP Id:
rs893439717
gnomAD v2:
16-31102266-G-C
gnomAD v3:
16-31090945-G-C
gnomAD v4:
16-31090945-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090945G>C , CM000678.2:g.31090945G>C | GRCh38 |
| NC_000016.9:g.31102266G>C , CM000678.1:g.31102266G>C | GRCh37 |
| NC_000016.8:g.31009767G>C | NCBI36 |
| NG_011564.1:g.9011C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394975.3:c.*189C>G MANE Select | ENSP00000378426.2:n.*189C>G | |
| ENST00000300851.10:c.*292C>G | ENSP00000300851.6:n.*292C>G | |
| ENST00000319788.11:c.*292C>G | ENSP00000326135.7:n.*292C>G | |
| ENST00000354895.4:c.*292C>G | ENSP00000346969.4:n.*292C>G | |
| ENST00000394975.2:c.*189C>G | ENSP00000378426.2:n.*189C>G | |
| ENST00000420057.2:c.643C>G | ||
| ENST00000529564.1:c.283+2367C>G | ENSP00000431371.1:n.283+2367C>G | |
| ENST00000532364.1:c.173+3612C>G | ENSP00000460316.1:n.173+3612C>G | |
| ENST00000533518.5:c.407+147C>G | ||
| NM_001311311.1:c.*189C>G | NP_001298240.1:n.*189C>G | |
| NM_024006.4:c.*189C>G | NP_076869.1:n.*189C>G | |
| NM_024006.5:c.*189C>G | NP_076869.1:n.*189C>G | |
| NM_206824.1:c.*292C>G | NP_996560.1:n.*292C>G | |
| NM_206824.2:c.*292C>G | NP_996560.1:n.*292C>G | |
| XM_011545944.1:c.*189C>G | XP_011544246.1:n.*189C>G | |
| XM_011545945.1:c.*292C>G | XP_011544247.1:n.*292C>G | |
| XR_950848.1:n.1469C>G | ||
| NM_024006.6:c.*189C>G MANE Select | NP_076869.1:n.*189C>G | |
| NM_001311311.2:c.*189C>G | NP_001298240.1:n.*189C>G | |
| NM_206824.3:c.*292C>G | NP_996560.1:n.*292C>G |