gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.77586643T>C , CM000666.2:g.77586643T>C | GRCh38 |
| NC_000004.11:g.78507797T>C , CM000666.1:g.78507797T>C | GRCh37 |
| NC_000004.10:g.78726821T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286758.4:c.-42-19181T>C | ENSP00000286758.4:n.-42-19181T>C | |
| NM_006419.2:c.-42-19181T>C | NP_006410.1:n.-42-19181T>C | |
| XR_938912.1:n.1013A>G | ||
| XR_938913.1:n.930+1058A>G | ||
| XR_001741743.1:n.1605A>G | ||
| XR_938912.2:n.1889A>G | ||
| NM_006419.3:c.-42-19181T>C | NP_006410.1:n.-42-19181T>C |