gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08422678 (NFE)
Genomes Max Group AF
0.08422678 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.10540506C>T , CM000683.2:g.10540506C>T | GRCh38 |
| NC_000021.8:g.10971951G>A , CM000683.1:g.10971951G>A | GRCh37 |
| NC_000021.7:g.9993822G>A | NCBI36 |
| NG_034032.1:g.23993C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618007.5:c.12-606C>T MANE Select | ENSP00000484403.1:n.12-606C>T | |
| ENST00000427445.6:c.12-606C>T | ENSP00000482488.1:n.12-606C>T | |
| ENST00000612746.1:c.-182+13094C>T | ENSP00000483087.1:n.-182+13094C>T | |
| ENST00000612957.4:c.12-606C>T | ENSP00000484064.1:n.12-606C>T | |
| ENST00000618007.4:c.12-606C>T | ENSP00000484403.1:n.12-606C>T | |
| ENST00000622113.4:c.12-606C>T | ENSP00000482040.1:n.12-606C>T | |
| NM_001290224.1:c.-182+13094C>T | NP_001277153.1:n.-182+13094C>T | |
| NM_199259.3:c.12-606C>T | NP_954868.1:n.12-606C>T | |
| NM_199260.3:c.12-606C>T | NP_954869.1:n.12-606C>T | |
| NM_199261.3:c.12-606C>T | NP_954870.2:n.12-606C>T | |
| NM_001290224.2:c.-182+13094C>T | NP_001277153.2:n.-182+13094C>T | |
| NM_199259.4:c.12-606C>T | NP_954868.2:n.12-606C>T | |
| NM_199260.4:c.12-606C>T | NP_954869.2:n.12-606C>T | |
| NM_199261.4:c.12-606C>T MANE Select | NP_954870.3:n.12-606C>T |