Linked Data
dbSNP Id:
rs174579
gnomAD v2:
11-61605613-C-T
gnomAD v3:
11-61838141-C-T
gnomAD v4:
11-61838141-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61838141C>T , CM000673.2:g.61838141C>T | GRCh38 |
| NC_000011.9:g.61605613C>T , CM000673.1:g.61605613C>T | GRCh37 |
| NC_000011.8:g.61362189C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278840.9:c.318+253C>T MANE Select | ENSP00000278840.4:n.318+253C>T | |
| ENST00000257261.10:c.252+253C>T | ENSP00000257261.6:n.252+253C>T | |
| ENST00000278840.8:c.318+253C>T | ENSP00000278840.4:n.318+253C>T | |
| ENST00000517312.5:c.-49+253C>T | ENSP00000430225.1:n.-49+253C>T | |
| ENST00000518606.5:c.-49+253C>T | ENSP00000430054.1:n.-49+253C>T | |
| ENST00000521849.5:c.318+253C>T | ENSP00000431091.1:n.318+253C>T | |
| ENST00000522056.5:c.225+253C>T | ENSP00000429500.1:n.225+253C>T | |
| NM_001281501.1:c.252+253C>T | NP_001268430.1:n.252+253C>T | |
| NM_001281502.1:c.225+253C>T | NP_001268431.1:n.225+253C>T | |
| NM_004265.3:c.318+253C>T | NP_004256.1:n.318+253C>T | |
| XM_011545395.1:c.318+253C>T | XP_011543697.1:n.318+253C>T | |
| NM_004265.4:c.318+253C>T MANE Select | NP_004256.1:n.318+253C>T |