Linked Data
dbSNP Id:
rs2274511
gnomAD v2:
14-33829320-C-T
gnomAD v3:
14-33360114-C-T
gnomAD v4:
14-33360114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33360114C>T , CM000676.2:g.33360114C>T | GRCh38 |
| NC_000014.8:g.33829320C>T , CM000676.1:g.33829320C>T | GRCh37 |
| NC_000014.7:g.32899071C>T | NCBI36 |
| NG_013036.1:g.425862C>T | |
| NG_013036.2:g.425862C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356141.9:c.386-7072C>T MANE Select | ENSP00000348460.4:n.386-7072C>T | |
| ENST00000551008.6:c.215-7072C>T | ENSP00000447213.2:n.215-7072C>T | |
| ENST00000551634.6:c.404-7072C>T | ENSP00000448373.2:n.404-7072C>T | |
| ENST00000680362.1:c.246-7078C>T | ||
| ENST00000681796.1:n.237-7072C>T | ||
| ENST00000346562.6:c.296-7078C>T | ENSP00000319610.5:n.296-7078C>T | |
| ENST00000356141.8:c.386-7072C>T | ENSP00000348460.4:n.386-7072C>T | |
| ENST00000357798.9:c.347-7072C>T | ENSP00000350446.5:n.347-7072C>T | |
| ENST00000546849.1:c.116-7072C>T | ENSP00000446700.1:n.116-7072C>T | |
| ENST00000547068.5:c.80-7078C>T | ENSP00000449542.1:n.80-7078C>T | |
| ENST00000548645.5:c.296-7072C>T | ENSP00000448916.1:n.296-7072C>T | |
| ENST00000549770.1:n.246-7072C>T | ||
| ENST00000551008.5:c.80-7072C>T | ENSP00000447213.1:n.80-7072C>T | |
| ENST00000551492.5:c.407-7078C>T | ENSP00000450392.1:n.407-7078C>T | |
| ENST00000551634.5:c.317-7072C>T | ENSP00000448373.1:n.317-7072C>T | |
| NM_001164749.1:c.386-7072C>T | NP_001158221.1:n.386-7072C>T | |
| NM_001165893.1:c.296-7072C>T | NP_001159365.1:n.296-7072C>T | |
| NM_022123.2:c.296-7078C>T | NP_071406.1:n.296-7078C>T | |
| NM_173159.2:c.347-7072C>T | NP_775182.1:n.347-7072C>T | |
| XM_005267991.2:c.407-7072C>T | XP_005268048.1:n.407-7072C>T | |
| XM_005267992.2:c.407-7078C>T | XP_005268049.1:n.407-7078C>T | |
| XM_005267993.2:c.347-7072C>T | XP_005268050.1:n.347-7072C>T | |
| XM_011537067.1:c.437-7072C>T | XP_011535369.1:n.437-7072C>T | |
| XM_011537068.1:c.437-7072C>T | XP_011535370.1:n.437-7072C>T | |
| XM_011537069.1:c.407-7072C>T | XP_011535371.1:n.407-7072C>T | |
| XM_011537070.1:c.347-7078C>T | XP_011535372.1:n.347-7078C>T | |
| XM_011537071.1:c.317-7072C>T | XP_011535373.1:n.317-7072C>T | |
| XM_011537072.1:c.296-7072C>T | XP_011535374.1:n.296-7072C>T | |
| XM_011537073.1:c.80-7072C>T | XP_011535375.1:n.80-7072C>T | |
| XM_011537074.1:c.80-7072C>T | XP_011535376.1:n.80-7072C>T | |
| XM_005267991.3:c.494-7072C>T | XP_005268048.2:n.494-7072C>T | |
| XM_005267992.3:c.494-7078C>T | XP_005268049.2:n.494-7078C>T | |
| XM_011537067.2:c.437-7072C>T | XP_011535369.1:n.437-7072C>T | |
| XM_011537069.2:c.494-7072C>T | XP_011535371.2:n.494-7072C>T | |
| XM_011537070.2:c.347-7078C>T | XP_011535372.1:n.347-7078C>T | |
| XM_011537071.2:c.404-7072C>T | XP_011535373.2:n.404-7072C>T | |
| XM_011537072.2:c.296-7072C>T | XP_011535374.1:n.296-7072C>T | |
| XM_017021582.1:c.545-7072C>T | XP_016877071.1:n.545-7072C>T | |
| XM_017021583.1:c.545-7072C>T | XP_016877072.1:n.545-7072C>T | |
| XM_017021584.1:c.455-7072C>T | XP_016877073.1:n.455-7072C>T | |
| XM_017021585.1:c.404-7072C>T | XP_016877074.1:n.404-7072C>T | |
| XM_017021586.1:c.80-7072C>T | XP_016877075.1:n.80-7072C>T | |
| XM_017021587.1:c.80-7072C>T | XP_016877076.1:n.80-7072C>T | |
| XM_017021588.1:c.80-7072C>T | XP_016877077.1:n.80-7072C>T | |
| NM_001164749.2:c.386-7072C>T MANE Select | NP_001158221.1:n.386-7072C>T | |
| NM_001165893.2:c.296-7072C>T | NP_001159365.1:n.296-7072C>T | |
| NM_022123.3:c.296-7078C>T | NP_071406.1:n.296-7078C>T | |
| NM_173159.3:c.347-7072C>T | NP_775182.1:n.347-7072C>T | |
| NM_001394988.1:c.347-7078C>T | NP_001381917.1:n.347-7078C>T | |
| NM_001394989.1:c.296-7072C>T | NP_001381918.1:n.296-7072C>T |