gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10973026A>G , CM000663.2:g.10973026A>G | GRCh38 |
| NC_000001.10:g.11033083A>G , CM000663.1:g.11033083A>G | GRCh37 |
| NC_000001.9:g.10955670A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377004.9:c.128-2937T>C MANE Select | ENSP00000366203.4:n.128-2937T>C | |
| ENST00000377004.8:c.128-2937T>C | ENSP00000366203.4:n.128-2937T>C | |
| ENST00000520253.1:c.61-2937T>C | ||
| NM_001170754.1:c.128-2937T>C | NP_001164225.1:n.128-2937T>C | |
| NM_001170754.2:c.128-2937T>C MANE Select | NP_001164225.1:n.128-2937T>C |