gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28297204 (AFR)
Genomes Max Group AF
0.28297204 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.107746970T>C , CM000665.2:g.107746970T>C | GRCh38 |
| NC_000003.11:g.107465817T>C , CM000665.1:g.107465817T>C | GRCh37 |
| NC_000003.10:g.108948507T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325805.13:c.751-995T>C MANE Select | ENSP00000319974.8:n.751-995T>C | |
| ENST00000325805.12:c.751-995T>C | ENSP00000319974.8:n.751-995T>C | |
| ENST00000402163.6:c.751-995T>C | ENSP00000385518.2:n.751-995T>C | |
| ENST00000402543.5:c.751-995T>C | ENSP00000385317.1:n.751-995T>C | |
| ENST00000406780.5:c.751-995T>C | ENSP00000385530.1:n.751-995T>C | |
| ENST00000415149.6:c.751-995T>C | ENSP00000408358.2:n.751-995T>C | |
| ENST00000416476.6:c.751-995T>C | ENSP00000403860.2:n.751-995T>C | |
| ENST00000472032.1:n.236-995T>C | ||
| ENST00000485939.5:n.345-995T>C | ||
| NM_001142568.2:c.751-995T>C | NP_001136040.1:n.751-995T>C | |
| NM_001276286.1:c.751-995T>C | NP_001263215.1:n.751-995T>C | |
| NM_020235.6:c.751-995T>C | NP_064620.2:n.751-995T>C | |
| XM_005247642.3:c.751-995T>C | XP_005247699.1:n.751-995T>C | |
| XM_005247643.3:c.751-995T>C | XP_005247700.1:n.751-995T>C | |
| XM_005247644.3:c.751-995T>C | XP_005247701.1:n.751-995T>C | |
| XM_011512998.1:c.787-995T>C | XP_011511300.1:n.787-995T>C | |
| XM_011512999.1:c.751-995T>C | XP_011511301.1:n.751-995T>C | |
| XM_011513000.1:c.751-995T>C | XP_011511302.1:n.751-995T>C | |
| XM_011513001.1:c.751-995T>C | XP_011511303.1:n.751-995T>C | |
| XM_011513002.1:c.751-995T>C | XP_011511304.1:n.751-995T>C | |
| XM_011513003.1:c.751-995T>C | XP_011511305.1:n.751-995T>C | |
| XM_011513004.1:c.751-995T>C | XP_011511306.1:n.751-995T>C | |
| XM_011513005.1:c.751-995T>C | XP_011511307.1:n.751-995T>C | |
| XM_011513006.1:c.751-995T>C | XP_011511308.1:n.751-995T>C | |
| XM_011513007.1:c.751-995T>C | XP_011511309.1:n.751-995T>C | |
| XM_011513008.1:c.751-995T>C | XP_011511310.1:n.751-995T>C | |
| XM_011513009.1:c.751-995T>C | XP_011511311.1:n.751-995T>C | |
| XM_011513010.1:c.751-995T>C | XP_011511312.1:n.751-995T>C | |
| XM_005247642.4:c.751-995T>C | XP_005247699.1:n.751-995T>C | |
| XM_005247643.4:c.751-995T>C | XP_005247700.1:n.751-995T>C | |
| XM_005247644.4:c.751-995T>C | XP_005247701.1:n.751-995T>C | |
| XM_011513000.2:c.751-995T>C | XP_011511302.1:n.751-995T>C | |
| XM_011513001.2:c.751-995T>C | XP_011511303.1:n.751-995T>C | |
| XM_011513004.2:c.751-995T>C | XP_011511306.1:n.751-995T>C | |
| XM_017006881.2:c.751-995T>C | XP_016862370.1:n.751-995T>C | |
| XM_017006882.1:c.751-995T>C | XP_016862371.1:n.751-995T>C | |
| XM_024453644.1:c.787-995T>C | XP_024309412.1:n.787-995T>C | |
| XM_024453645.1:c.787-995T>C | XP_024309413.1:n.787-995T>C | |
| XM_024453646.1:c.751-995T>C | XP_024309414.1:n.751-995T>C | |
| XM_024453647.1:c.751-995T>C | XP_024309415.1:n.751-995T>C | |
| XM_024453648.1:c.751-995T>C | XP_024309416.1:n.751-995T>C | |
| XM_024453649.1:c.751-995T>C | XP_024309417.1:n.751-995T>C | |
| XM_024453650.1:c.751-995T>C | XP_024309418.1:n.751-995T>C | |
| XM_024453651.1:c.751-995T>C | XP_024309419.1:n.751-995T>C | |
| XM_024453652.1:c.751-995T>C | XP_024309420.1:n.751-995T>C | |
| XM_024453653.1:c.751-995T>C | XP_024309421.1:n.751-995T>C | |
| XM_024453654.1:c.751-995T>C | XP_024309422.1:n.751-995T>C | |
| XM_024453655.1:c.751-995T>C | XP_024309423.1:n.751-995T>C | |
| XM_024453656.1:c.787-995T>C | XP_024309424.1:n.787-995T>C | |
| XM_024453657.1:c.787-995T>C | XP_024309425.1:n.787-995T>C | |
| XM_024453658.1:c.787-995T>C | XP_024309426.1:n.787-995T>C | |
| XM_024453659.1:c.751-995T>C | XP_024309427.1:n.751-995T>C | |
| XM_024453660.1:c.751-995T>C | XP_024309428.1:n.751-995T>C | |
| XM_024453661.1:c.787-995T>C | XP_024309429.1:n.787-995T>C | |
| XM_024453662.1:c.787-995T>C | XP_024309430.1:n.787-995T>C | |
| XM_024453663.1:c.787-995T>C | XP_024309431.1:n.787-995T>C | |
| XM_024453664.1:c.787-995T>C | XP_024309432.1:n.787-995T>C | |
| XM_024453665.1:c.787-995T>C | XP_024309433.1:n.787-995T>C | |
| XM_024453666.1:c.751-995T>C | XP_024309434.1:n.751-995T>C | |
| XM_024453667.1:c.787-995T>C | XP_024309435.1:n.787-995T>C | |
| NM_001142568.3:c.751-995T>C MANE Select | NP_001136040.1:n.751-995T>C | |
| NM_001276286.2:c.751-995T>C | NP_001263215.1:n.751-995T>C | |
| NM_020235.7:c.751-995T>C | NP_064620.2:n.751-995T>C |