Linked Data
dbSNP Id:
rs778784441
ExAC:
5:80502704 T / C
gnomAD v2:
5-80502704-T-C
gnomAD v4:
5-81206885-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.81206885T>C , CM000667.2:g.81206885T>C | GRCh38 |
| NC_000005.9:g.80502704T>C , CM000667.1:g.80502704T>C | GRCh37 |
| NC_000005.8:g.80538460T>C | NCBI36 |
| NG_030334.1:g.251197T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265080.9:c.2947T>C MANE Select | ENSP00000265080.4:p.Leu983= | |
| ENST00000265080.8:c.2947T>C | ENSP00000265080.4:p.Leu983= | |
| ENST00000503795.1:c.2947T>C | ENSP00000421771.1:p.Leu983= | |
| NM_006909.2:c.2947T>C | NP_008840.1:p.Leu983= | |
| XM_017009682.2:c.2662T>C | XP_016865171.1:p.Leu888= | |
| XR_002956166.1:n.3063T>C | ||
| NM_006909.3:c.2947T>C MANE Select | NP_008840.1:p.Leu983= |