gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25158321 (NFE)
Genomes Max Group AF
0.25158321 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92617430C>G , CM000669.2:g.92617430C>G | GRCh38 |
| NC_000007.13:g.92246744C>G , CM000669.1:g.92246744C>G | GRCh37 |
| NC_000007.12:g.92084680C>G | NCBI36 |
| NG_015888.1:g.224198G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424848.3:c.834+642G>C MANE Select | ENSP00000397087.3:n.834+642G>C | |
| ENST00000265734.8:c.834+642G>C | ENSP00000265734.4:n.834+642G>C | |
| ENST00000424848.2:c.834+642G>C | ENSP00000397087.2:n.834+642G>C | |
| ENST00000467166.1:n.206+642G>C | ||
| NM_001145306.1:c.834+642G>C | NP_001138778.1:n.834+642G>C | |
| NM_001259.6:c.834+642G>C | NP_001250.1:n.834+642G>C | |
| XM_006715835.1:c.834+642G>C | XP_006715898.1:n.834+642G>C | |
| XM_011515731.1:c.834+642G>C | XP_011514033.1:n.834+642G>C | |
| NM_001259.7:c.834+642G>C | NP_001250.1:n.834+642G>C | |
| XM_006715835.2:c.834+642G>C | XP_006715898.1:n.834+642G>C | |
| NM_001145306.2:c.834+642G>C MANE Select | NP_001138778.1:n.834+642G>C | |
| NM_001259.8:c.834+642G>C | NP_001250.1:n.834+642G>C |