Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3797223C>A , CM000681.2:g.3797223C>A | GRCh38 |
| NC_000019.9:g.3797221C>A , CM000681.1:g.3797221C>A | GRCh37 |
| NC_000019.8:g.3748221C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395045.6:c.-58+4309G>T | ENSP00000378485.1:n.-58+4309G>T | |
| ENST00000590821.1:n.271+4309G>T | ||
| ENST00000590849.1:c.-52+4309G>T | ENSP00000467992.1:n.-52+4309G>T | |
| ENST00000590980.1:c.-58+4309G>T | ENSP00000467472.1:n.-58+4309G>T | |
| ENST00000592300.1:n.273-3822G>T | ||
| ENST00000592612.1:n.251-3825G>T | ||
| NM_002378.3:c.-58+4309G>T | NP_002369.2:n.-58+4309G>T | |
| XM_011528019.1:c.-58+4309G>T | XP_011526321.1:n.-58+4309G>T | |
| NM_002378.4:c.-58+4309G>T | NP_002369.2:n.-58+4309G>T |