Linked Data
ClinVar Variation Id:
212172
ClinVar RCV Id:
RCV000193037
dbSNP Id:
rs201242991
gnomAD v2:
11-70319049-G-A
gnomAD v3:
11-70472944-G-A
gnomAD v4:
11-70472944-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70472944G>A , CM000673.2:g.70472944G>A | GRCh38 |
| NC_000011.9:g.70319049G>A , CM000673.1:g.70319049G>A | GRCh37 |
| NC_000011.8:g.69996697G>A | NCBI36 |
| NG_042866.1:g.656853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3708C>T | ENSP00000345193.7:p.Leu1236= | |
| ENST00000412252.6:c.1253C>T | ENSP00000414876.2:n.1253C>T | |
| ENST00000601538.6:c.5475C>T MANE Select | ENSP00000469689.2:p.Leu1825= | |
| ENST00000654939.1:c.2984C>T | ||
| ENST00000656230.1:c.4338C>T | ENSP00000499561.1:p.Leu1446= | |
| ENST00000659264.1:c.3765C>T | ENSP00000499270.1:p.Leu1255= | |
| ENST00000338508.8:c.3711C>T | ENSP00000345193.6:p.Leu1237= | |
| ENST00000357171.7:c.*479C>T | ENSP00000349694.4:n.*479C>T | |
| ENST00000409161.5:c.3687C>T | ENSP00000386491.1:p.Leu1229= | |
| ENST00000412252.5:c.1251C>T | ||
| ENST00000423696.6:c.4338C>T | ENSP00000394536.2:p.Leu1446= | |
| ENST00000424924.5:c.3312C>T | ENSP00000402944.1:p.Leu1104= | |
| ENST00000449833.6:c.3711C>T | ENSP00000399423.3:p.Leu1237= | |
| ENST00000601538.5:c.5475C>T | ENSP00000469689.2:p.Leu1825= | |
| ENST00000606715.3:n.2227C>T | ||
| NM_012309.4:c.5475C>T | NP_036441.2:p.Leu1825= | |
| NM_133266.4:c.3711C>T | NP_573573.2:p.Leu1237= | |
| NR_110766.1:n.1329C>T | ||
| XM_005277930.2:c.5475C>T | XP_005277987.1:p.Leu1825= | |
| XM_005277932.2:c.4338C>T | XP_005277989.1:p.Leu1446= | |
| XM_006718478.2:c.5445C>T | XP_006718541.1:p.Leu1815= | |
| XM_011544854.1:c.5487C>T | XP_011543156.1:p.Leu1829= | |
| XM_011544855.1:c.5466C>T | XP_011543157.1:p.Leu1822= | |
| XM_011544856.1:c.5460C>T | XP_011543158.1:p.Leu1820= | |
| XM_011544857.1:c.5439C>T | XP_011543159.1:p.Leu1813= | |
| XM_011544859.1:c.4350C>T | XP_011543161.1:p.Leu1450= | |
| XM_005277932.3:c.4338C>T | XP_005277989.1:p.Leu1446= | |
| XM_017017387.1:c.5475C>T | XP_016872876.1:p.Leu1825= | |
| XM_017017388.1:c.5475C>T | XP_016872877.1:p.Leu1825= | |
| XM_017017389.1:c.5448C>T | XP_016872878.1:p.Leu1816= | |
| XM_017017390.1:c.3765C>T | XP_016872879.1:p.Leu1255= | |
| NM_133266.5:c.3711C>T | NP_573573.2:p.Leu1237= | |
| NR_110766.2:n.1330C>T | ||
| NM_001379226.1:c.4338C>T | NP_001366155.1:p.Leu1446= | |
| NM_012309.5:c.5475C>T MANE Select | NP_036441.2:p.Leu1825= |