Linked Data
dbSNP Id:
rs2710322
gnomAD v2:
3-52817593-T-C
gnomAD v3:
3-52783577-T-C
gnomAD v4:
3-52783577-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52783577T>C , CM000665.2:g.52783577T>C | GRCh38 |
| NC_000003.11:g.52817593T>C , CM000665.1:g.52817593T>C | GRCh37 |
| NC_000003.10:g.52792633T>C | NCBI36 |
| NG_016005.1:g.10986T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273283.7:c.1225+238T>C MANE Select | ENSP00000273283.2:n.1225+238T>C | |
| ENST00000273283.6:c.1225+238T>C | ENSP00000273283.2:n.1225+238T>C | |
| ENST00000537050.5:c.361+238T>C | ENSP00000443847.1:n.361+238T>C | |
| ENST00000628722.2:n.1080+238T>C | ||
| NM_001166434.2:c.799+238T>C | NP_001159906.1:n.799+238T>C | |
| NM_001166435.2:c.361+238T>C | NP_001159907.1:n.361+238T>C | |
| NM_001166436.2:c.361+238T>C | NP_001159908.1:n.361+238T>C | |
| NM_002215.3:c.1225+238T>C | NP_002206.2:n.1225+238T>C | |
| NM_002215.4:c.1225+238T>C MANE Select | NP_002206.2:n.1225+238T>C | |
| NM_001166434.3:c.799+238T>C | NP_001159906.1:n.799+238T>C |