Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21567650T>C , CM000669.2:g.21567650T>C | GRCh38 |
| NC_000007.13:g.21607268T>C , CM000669.1:g.21607268T>C | GRCh37 |
| NC_000007.12:g.21573793T>C | NCBI36 |
| NG_012886.2:g.29436T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409508.8:c.1195-2419T>C MANE Select | ENSP00000475939.1:n.1195-2419T>C | |
| ENST00000328843.10:c.1195-2419T>C | ENSP00000330671.7:n.1195-2419T>C | |
| ENST00000409508.7:c.1195-2419T>C | ENSP00000475939.1:n.1195-2419T>C | |
| ENST00000496218.1:n.81-2419T>C | ||
| ENST00000620169.4:c.1195-2419T>C | ENSP00000481693.1:n.1195-2419T>C | |
| NM_001277115.1:c.1195-2419T>C | NP_001264044.1:n.1195-2419T>C | |
| XR_927090.1:n.563+5676A>G | ||
| XR_001745114.1:n.2793+5676A>G | ||
| NM_001277115.2:c.1195-2419T>C MANE Select | NP_001264044.1:n.1195-2419T>C |