Linked Data
dbSNP Id:
rs2072743
gnomAD v2:
X-43599521-T-C
gnomAD v3:
X-43740274-T-C
gnomAD v4:
X-43740274-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43740274T>C , CM000685.2:g.43740274T>C | GRCh38 |
| NC_000023.10:g.43599521T>C , CM000685.1:g.43599521T>C | GRCh37 |
| NC_000023.9:g.43484465T>C | NCBI36 |
| NG_008957.2:g.89114T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542639.6:c.708-407T>C | ENSP00000440846.1:n.708-407T>C | |
| ENST00000686683.1:c.417-407T>C | ENSP00000509063.1:n.417-407T>C | |
| ENST00000686980.1:n.5232T>C | ||
| ENST00000688006.1:c.708-407T>C | ENSP00000510311.1:n.708-407T>C | |
| ENST00000688859.1:n.663-407T>C | ||
| ENST00000689087.1:c.708-407T>C | ENSP00000508997.1:n.708-407T>C | |
| ENST00000693128.1:c.1002-407T>C | ENSP00000508493.1:n.1002-407T>C | |
| ENST00000338702.4:c.1107-407T>C MANE Select | ENSP00000340684.3:n.1107-407T>C | |
| ENST00000338702.3:c.1107-407T>C | ENSP00000340684.3:n.1107-407T>C | |
| ENST00000542639.5:c.708-407T>C | ENSP00000440846.1:n.708-407T>C | |
| NM_000240.3:c.1107-407T>C | NP_000231.1:n.1107-407T>C | |
| NM_001270458.1:c.708-407T>C | NP_001257387.1:n.708-407T>C | |
| NM_000240.4:c.1107-407T>C MANE Select | NP_000231.1:n.1107-407T>C | |
| NM_001270458.2:c.708-407T>C | NP_001257387.1:n.708-407T>C |