Linked Data
ClinVar Variation Id:
1225916
ClinVar RCV Id:
RCV001613591
dbSNP Id:
rs1609798
gnomAD v2:
4-103537442-C-T
gnomAD v3:
4-102616285-C-T
gnomAD v4:
4-102616285-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102616285C>T , CM000666.2:g.102616285C>T | GRCh38 |
| NC_000004.11:g.103537442C>T , CM000666.1:g.103537442C>T | GRCh37 |
| NC_000004.10:g.103756488C>T | NCBI36 |
| NG_050628.1:g.119957C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507079.6:c.2774-149C>T | ENSP00000426147.2:n.2774-149C>T | |
| ENST00000509165.2:c.2750-149C>T | ENSP00000423877.2:n.2750-149C>T | |
| ENST00000697794.1:c.*2391-149C>T | ENSP00000513443.1:n.*2391-149C>T | |
| ENST00000697799.1:n.2247-149C>T | ||
| ENST00000697801.1:n.951-149C>T | ||
| ENST00000698233.1:n.2479-149C>T | ||
| ENST00000226574.9:c.2750-149C>T MANE Select | ENSP00000226574.4:n.2750-149C>T | |
| ENST00000652569.1:c.2726-149C>T | ||
| ENST00000652619.1:c.*1277-149C>T | ENSP00000499031.1:n.*1277-149C>T | |
| ENST00000226574.8:c.2750-149C>T | ENSP00000226574.4:n.2750-149C>T | |
| ENST00000394820.8:c.2747-149C>T | ENSP00000378297.4:n.2747-149C>T | |
| ENST00000505458.5:c.2747-149C>T | ENSP00000424790.1:n.2747-149C>T | |
| ENST00000600343.5:c.2207-149C>T | ENSP00000469340.1:n.2207-149C>T | |
| NM_001165412.1:c.2747-149C>T | NP_001158884.1:n.2747-149C>T | |
| NM_003998.3:c.2750-149C>T | NP_003989.2:n.2750-149C>T | |
| XM_011532006.1:c.2771-149C>T | XP_011530308.1:n.2771-149C>T | |
| XM_011532007.1:c.2747-149C>T | XP_011530309.1:n.2747-149C>T | |
| XM_011532008.1:c.2591-149C>T | XP_011530310.1:n.2591-149C>T | |
| XM_011532009.1:c.2354-149C>T | XP_011530311.1:n.2354-149C>T | |
| NM_001319226.1:c.2747-149C>T | NP_001306155.1:n.2747-149C>T | |
| XM_011532006.2:c.2771-149C>T | XP_011530308.1:n.2771-149C>T | |
| XM_024454067.1:c.2774-149C>T | XP_024309835.1:n.2774-149C>T | |
| XM_024454068.1:c.2750-149C>T | XP_024309836.1:n.2750-149C>T | |
| XM_024454069.1:c.2615-149C>T | XP_024309837.1:n.2615-149C>T | |
| NM_003998.4:c.2750-149C>T MANE Select | NP_003989.2:n.2750-149C>T | |
| NM_001165412.2:c.2747-149C>T | NP_001158884.1:n.2747-149C>T | |
| NM_001319226.2:c.2747-149C>T | NP_001306155.1:n.2747-149C>T | |
| NM_001382625.1:c.2750-149C>T | NP_001369554.1:n.2750-149C>T | |
| NM_001382626.1:c.2750-149C>T | NP_001369555.1:n.2750-149C>T | |
| NM_001382627.1:c.2747-149C>T | NP_001369556.1:n.2747-149C>T | |
| NM_001382628.1:c.2708-149C>T | NP_001369557.1:n.2708-149C>T |