Linked Data
dbSNP Id:
rs498793
gnomAD v2:
11-61624705-T-C
gnomAD v3:
11-61857233-T-C
gnomAD v4:
11-61857233-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61857233T>C , CM000673.2:g.61857233T>C | GRCh38 |
| NC_000011.9:g.61624705T>C , CM000673.1:g.61624705T>C | GRCh37 |
| NC_000011.8:g.61381281T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278840.9:c.805+162T>C MANE Select | ENSP00000278840.4:n.805+162T>C | |
| ENST00000257261.10:c.739+162T>C | ENSP00000257261.6:n.739+162T>C | |
| ENST00000278840.8:c.805+162T>C | ENSP00000278840.4:n.805+162T>C | |
| ENST00000355484.3:c.103+162T>C | ENSP00000437965.1:n.103+162T>C | |
| ENST00000521571.6:c.103+162T>C | ENSP00000443867.1:n.103+162T>C | |
| ENST00000521849.5:c.805+162T>C | ENSP00000431091.1:n.805+162T>C | |
| ENST00000522056.5:c.712+162T>C | ENSP00000429500.1:n.712+162T>C | |
| ENST00000523235.5:n.2885+162T>C | ||
| NM_001281501.1:c.739+162T>C | NP_001268430.1:n.739+162T>C | |
| NM_001281502.1:c.712+162T>C | NP_001268431.1:n.712+162T>C | |
| NM_004265.3:c.805+162T>C | NP_004256.1:n.805+162T>C | |
| NM_004265.4:c.805+162T>C MANE Select | NP_004256.1:n.805+162T>C |