gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002665 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00002625 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123737226C>T , CM000674.2:g.123737226C>T | GRCh38 |
| NC_000012.11:g.124221773C>T , CM000674.1:g.124221773C>T | GRCh37 |
| NC_000012.10:g.122787726C>T | NCBI36 |
| NG_012743.1:g.29909C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.993C>T MANE Select | ENSP00000332247.2:p.Pro331= | |
| ENST00000540368.6:n.1024C>T | ||
| ENST00000613625.5:c.993C>T | ENSP00000482236.1:p.Pro331= | |
| ENST00000674794.1:c.1081C>T | ||
| ENST00000675344.1:c.993C>T | ENSP00000501953.1:p.Pro331= | |
| ENST00000330342.7:c.993C>T | ENSP00000332247.2:p.Pro331= | |
| ENST00000504192.2:c.603C>T | ENSP00000443441.1:p.Pro201= | |
| ENST00000540368.5:n.1203C>T | ||
| ENST00000545059.5:n.3629C>T | ||
| ENST00000613625.4:c.993C>T | ENSP00000482236.1:p.Pro331= | |
| NM_012463.3:c.993C>T | NP_036595.2:p.Pro331= | |
| XM_005253563.1:c.993C>T | XP_005253620.1:p.Pro331= | |
| XM_006719317.2:c.480C>T | XP_006719380.1:p.Pro160= | |
| XM_006719318.2:c.171C>T | XP_006719381.1:p.Pro57= | |
| XR_429088.1:n.1156C>T | ||
| XM_024448910.1:c.993C>T | XP_024304678.1:p.Pro331= | |
| XM_024448911.1:c.480C>T | XP_024304679.1:p.Pro160= | |
| XM_024448912.1:c.171C>T | XP_024304680.1:p.Pro57= | |
| NM_012463.4:c.993C>T MANE Select | NP_036595.2:p.Pro331= |