Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835401C>G , CM000670.2:g.117835401C>G | GRCh38 |
| NC_000008.10:g.118847640C>G , CM000670.1:g.118847640C>G | GRCh37 |
| NC_000008.9:g.118916821C>G | NCBI36 |
| NG_007455.2:g.281419G>C , LRG_493:g.281419G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.631+43G>C | ||
| ENST00000378204.7:c.1164+43G>C MANE Select | ENSP00000367446.3:n.1164+43G>C | |
| ENST00000436216.2:c.532+43G>C | ||
| ENST00000378204.6:c.1164+43G>C | ENSP00000367446.2:n.1164+43G>C | |
| ENST00000436216.1:c.532+43G>C | ||
| ENST00000437196.1:c.*55+43G>C | ENSP00000407299.1:n.*55+43G>C | |
| NM_000127.2:c.1164+43G>C , LRG_493t1:c.1164+43G>C | NP_000118.2:n.1164+43G>C | |
| NM_000127.3:c.1164+43G>C MANE Select | NP_000118.2:n.1164+43G>C |