Linked Data
dbSNP Id:
rs149709
gnomAD v2:
6-37278933-T-C
gnomAD v3:
6-37311157-T-C
gnomAD v4:
6-37311157-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.37311157T>C , CM000668.2:g.37311157T>C | GRCh38 |
| NC_000006.11:g.37278933T>C , CM000668.1:g.37278933T>C | GRCh37 |
| NC_000006.10:g.37386911T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373491.3:c.983-1761T>C MANE Select | ENSP00000362590.3:n.983-1761T>C | |
| NM_017772.3:c.983-1761T>C | NP_060242.2:n.983-1761T>C | |
| NR_130108.1:n.1258-1761T>C | ||
| XM_011514738.1:c.983-1761T>C | XP_011513040.1:n.983-1761T>C | |
| XM_011514739.1:c.983-1761T>C | XP_011513041.1:n.983-1761T>C | |
| XR_241906.1:n.1034-1761T>C | ||
| XR_427833.1:n.1149-1723T>C | ||
| XR_926270.1:n.1149-1723T>C | ||
| XM_011514738.3:c.983-1761T>C | XP_011513040.1:n.983-1761T>C | |
| XM_011514739.2:c.983-1761T>C | XP_011513041.1:n.983-1761T>C | |
| XR_241906.2:n.1014-1761T>C | ||
| XR_427833.2:n.1129-1723T>C | ||
| XR_926270.3:n.1129-1723T>C | ||
| NM_017772.4:c.983-1761T>C MANE Select | NP_060242.2:n.983-1761T>C | |
| NR_130108.2:n.1190-1761T>C |