gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114802595T>G , CM000671.2:g.114802595T>G | GRCh38 |
| NC_000009.11:g.117564875T>G , CM000671.1:g.117564875T>G | GRCh37 |
| NC_000009.10:g.116604696T>G | NCBI36 |
| NG_011488.2:g.8534A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.210+3208A>C MANE Select | ENSP00000363157.3:n.210+3208A>C | |
| ENST00000374045.4:c.210+3208A>C | ENSP00000363157.3:n.210+3208A>C | |
| NM_005118.3:c.210+3208A>C | NP_005109.2:n.210+3208A>C | |
| NM_005118.4:c.210+3208A>C MANE Select | NP_005109.2:n.210+3208A>C |