gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00205469 (MID)
Genomes Max Group AF
0.00037923 (NFE)
Exomes Max Group AF
0.00201948 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37428547C>T , CM000671.2:g.37428547C>T | GRCh38 |
| NC_000009.11:g.37428544C>T , CM000671.1:g.37428544C>T | GRCh37 |
| NC_000009.10:g.37418544C>T | NCBI36 |
| NG_008135.1:g.10838C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.468C>T MANE Select | ENSP00000313432.6:p.Val156= | |
| ENST00000318158.10:c.468C>T | ENSP00000313432.6:p.Val156= | |
| ENST00000377824.8:n.505C>T | ||
| ENST00000460882.5:n.495C>T | ||
| ENST00000480596.5:n.10C>T | ||
| ENST00000491488.5:n.173C>T | ||
| ENST00000493368.5:n.525C>T | ||
| ENST00000497693.1:n.842C>T | ||
| ENST00000607784.1:c.468C>T | ENSP00000475569.1:p.Val156= | |
| NM_012203.1:c.468C>T | NP_036335.1:p.Val156= | |
| XM_005251631.1:c.147C>T | XP_005251688.1:p.Val49= | |
| XM_011518073.1:c.-295C>T | XP_011516375.1:n.-295C>T | |
| XR_929374.1:n.553C>T | ||
| XM_017015320.2:c.468C>T | XP_016870809.1:p.Val156= | |
| XM_017015321.2:c.468C>T | XP_016870810.1:p.Val156= | |
| XM_017015323.2:c.-295C>T | XP_016870812.1:n.-295C>T | |
| XM_024447716.1:c.741C>T | XP_024303484.1:p.Val247= | |
| XM_024447717.1:c.741C>T | XP_024303485.1:p.Val247= | |
| XR_002956828.1:n.756C>T | ||
| XR_002956829.1:n.756C>T | ||
| XR_002956830.1:n.527C>T | ||
| XR_002956831.1:n.202C>T | ||
| XR_002956832.1:n.527C>T | ||
| NM_012203.2:c.468C>T MANE Select | NP_036335.1:p.Val156= |