Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542066C>G , CM000671.2:g.98542066C>G | GRCh38 |
| NC_000009.11:g.101304348C>G , CM000671.1:g.101304348C>G | GRCh37 |
| NC_000009.10:g.100344169C>G | NCBI36 |
| NG_016426.1:g.172132G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259455.4:c.460-23G>C MANE Select | ENSP00000259455.2:n.460-23G>C | |
| ENST00000637410.1:n.238-23G>C | ||
| ENST00000637717.1:c.76-23G>C | ENSP00000490789.1:n.76-23G>C | |
| ENST00000638001.1:n.70-23G>C | ||
| ENST00000259455.3:c.460-23G>C | ENSP00000259455.2:n.460-23G>C | |
| ENST00000477471.1:n.247-23G>C | ||
| ENST00000634227.1:n.234-23G>C | ||
| NM_005458.7:c.460-23G>C | NP_005449.5:n.460-23G>C | |
| XM_017015331.2:c.166-23G>C | XP_016870820.1:n.166-23G>C | |
| NM_005458.8:c.460-23G>C MANE Select | NP_005449.5:n.460-23G>C |