Linked Data
dbSNP Id:
rs372737140
ExAC:
4:964827 T / C
gnomAD v2:
4-964827-T-C
gnomAD v3:
4-971039-T-C
gnomAD v4:
4-971039-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.971039T>C , CM000666.2:g.971039T>C | GRCh38 |
| NC_000004.11:g.964827T>C , CM000666.1:g.964827T>C | GRCh37 |
| NC_000004.10:g.954827T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273814.8:c.305A>G MANE Select | ENSP00000273814.3:p.Lys102Arg | |
| ENST00000273814.7:c.305A>G | ENSP00000273814.3:p.Lys102Arg | |
| ENST00000509465.5:c.145A>G | ||
| ENST00000510286.1:c.80A>G | ENSP00000427268.1:p.Lys27Arg | |
| NM_001347.3:c.305A>G | NP_001338.2:p.Lys102Arg | |
| XM_011513411.1:c.305A>G | XP_011511713.1:p.Lys102Arg | |
| XM_011513412.1:c.305A>G | XP_011511714.1:p.Lys102Arg | |
| XM_011513413.1:c.305A>G | XP_011511715.1:p.Lys102Arg | |
| XM_011513414.1:c.305A>G | XP_011511716.1:p.Lys102Arg | |
| XM_011513415.1:c.305A>G | XP_011511717.1:p.Lys102Arg | |
| XM_011513414.2:c.305A>G | XP_011511716.1:p.Lys102Arg | |
| XM_017007814.1:c.305A>G | XP_016863303.1:p.Lys102Arg | |
| XM_017007815.1:c.305A>G | XP_016863304.1:p.Lys102Arg | |
| XR_002959715.1:n.368A>G | ||
| NM_001347.4:c.305A>G MANE Select | NP_001338.2:p.Lys102Arg |