Linked Data
dbSNP Id:
rs1304922960
gnomAD v2:
4-103444390-T-C
gnomAD v3:
4-102523233-T-C
gnomAD v4:
4-102523233-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102523233T>C , CM000666.2:g.102523233T>C | GRCh38 |
| NC_000004.11:g.103444390T>C , CM000666.1:g.103444390T>C | GRCh37 |
| NC_000004.10:g.103663420T>C | NCBI36 |
| NG_050628.1:g.26905T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507079.6:c.18-2279T>C | ENSP00000426147.2:n.18-2279T>C | |
| ENST00000509165.2:c.-7-2279T>C | ENSP00000423877.2:n.-7-2279T>C | |
| ENST00000697793.1:n.179-6603T>C | ||
| ENST00000697794.1:c.-7-2279T>C | ENSP00000513443.1:n.-7-2279T>C | |
| ENST00000697795.1:n.47-2279T>C | ||
| ENST00000697796.1:n.276-2285T>C | ||
| ENST00000697797.1:n.197-2285T>C | ||
| ENST00000226574.9:c.-7-2279T>C MANE Select | ENSP00000226574.4:n.-7-2279T>C | |
| ENST00000652619.1:c.18-2279T>C | ENSP00000499031.1:n.18-2279T>C | |
| ENST00000226574.8:c.-7-2279T>C | ENSP00000226574.4:n.-7-2279T>C | |
| ENST00000394820.8:c.-7-2279T>C | ENSP00000378297.4:n.-7-2279T>C | |
| ENST00000505458.5:c.-7-2279T>C | ENSP00000424790.1:n.-7-2279T>C | |
| ENST00000507079.5:c.18-2279T>C | ENSP00000426147.1:n.18-2279T>C | |
| ENST00000509165.1:c.-7-2279T>C | ENSP00000423877.1:n.-7-2279T>C | |
| ENST00000511926.5:c.18-2279T>C | ENSP00000420904.1:n.18-2279T>C | |
| NM_001165412.1:c.-7-2279T>C | NP_001158884.1:n.-7-2279T>C | |
| NM_003998.3:c.-7-2279T>C | NP_003989.2:n.-7-2279T>C | |
| XM_011532006.1:c.18-2279T>C | XP_011530308.1:n.18-2279T>C | |
| XM_011532007.1:c.-7-2279T>C | XP_011530309.1:n.-7-2279T>C | |
| NM_001319226.1:c.-7-2279T>C | NP_001306155.1:n.-7-2279T>C | |
| XM_011532006.2:c.18-2279T>C | XP_011530308.1:n.18-2279T>C | |
| XM_024454067.1:c.18-2279T>C | XP_024309835.1:n.18-2279T>C | |
| XM_024454068.1:c.-7-2279T>C | XP_024309836.1:n.-7-2279T>C | |
| XM_024454069.1:c.18-2279T>C | XP_024309837.1:n.18-2279T>C | |
| NM_003998.4:c.-7-2279T>C MANE Select | NP_003989.2:n.-7-2279T>C | |
| NM_001165412.2:c.-7-2279T>C | NP_001158884.1:n.-7-2279T>C | |
| NM_001319226.2:c.-7-2279T>C | NP_001306155.1:n.-7-2279T>C | |
| NM_001382625.1:c.-7-2279T>C | NP_001369554.1:n.-7-2279T>C | |
| NM_001382626.1:c.-7-2279T>C | NP_001369555.1:n.-7-2279T>C | |
| NM_001382627.1:c.-7-2279T>C | NP_001369556.1:n.-7-2279T>C | |
| NM_001382628.1:c.1-6603T>C | NP_001369557.1:n.1-6603T>C |