dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93157121T>A , CM000670.2:g.93157121T>A | GRCh38 |
| NC_000008.10:g.94169350T>A , CM000670.1:g.94169350T>A | GRCh37 |
| NC_000008.9:g.94238526T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001242668.1:c.37+9610A>T | NP_001229597.1:n.37+9610A>T | |
| XR_928416.1:n.60+81T>A | ||
| XR_928417.1:n.60+81T>A | ||
| XR_928418.1:n.60+81T>A | ||
| XR_928419.1:n.60+81T>A | ||
| NR_161372.1:n.120+9610A>T |