Linked Data
dbSNP Id:
rs766809160
ExAC:
19:44237526 A / G
gnomAD v2:
19-44237526-A-G
gnomAD v4:
19-43733374-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43733374A>G , CM000681.2:g.43733374A>G | GRCh38 |
| NC_000019.9:g.44237526A>G , CM000681.1:g.44237526A>G | GRCh37 |
| NC_000019.8:g.48929366A>G | NCBI36 |
| NG_051200.1:g.26663T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270066.11:c.1289T>C MANE Select | ENSP00000270066.6:p.Leu430Pro | |
| ENST00000270066.10:c.1289T>C | ENSP00000270066.6:p.Leu430Pro | |
| ENST00000594081.1:n.533T>C | ||
| ENST00000601170.5:c.1289T>C | ENSP00000471398.1:p.Leu430Pro | |
| NM_019108.2:c.1289T>C | NP_061981.2:p.Leu430Pro | |
| XM_005259057.2:c.1289T>C | XP_005259114.1:p.Leu430Pro | |
| XM_011527113.1:c.1289T>C | XP_011525415.1:p.Leu430Pro | |
| XM_011527114.1:c.1289T>C | XP_011525416.1:p.Leu430Pro | |
| XM_011527115.1:c.1289T>C | XP_011525417.1:p.Leu430Pro | |
| XM_011527116.1:c.1289T>C | XP_011525418.1:p.Leu430Pro | |
| XM_011527117.1:c.557T>C | XP_011525419.1:p.Leu186Pro | |
| NM_019108.3:c.1289T>C | NP_061981.2:p.Leu430Pro | |
| XM_005259057.3:c.1289T>C | XP_005259114.1:p.Leu430Pro | |
| XM_017026988.1:c.557T>C | XP_016882477.1:p.Leu186Pro | |
| XM_024451608.1:c.557T>C | XP_024307376.1:p.Leu186Pro | |
| NM_019108.4:c.1289T>C MANE Select | NP_061981.2:p.Leu430Pro |