Linked Data
ClinVar Variation Id:
2628517
ClinVar RCV Id:
RCV004538955
dbSNP Id:
rs1555149133
gnomAD v2:
11-70319299-C-A
gnomAD v4:
11-70473194-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473194C>A , CM000673.2:g.70473194C>A | GRCh38 |
| NC_000011.9:g.70319299C>A , CM000673.1:g.70319299C>A | GRCh37 |
| NC_000011.8:g.69996947C>A | NCBI36 |
| NG_042866.1:g.656603G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3458G>T | ENSP00000345193.7:p.Ser1153Ile | |
| ENST00000412252.6:c.1003G>T | ENSP00000414876.2:n.1003G>T | |
| ENST00000601538.6:c.5225G>T MANE Select | ENSP00000469689.2:p.Ser1742Ile | |
| ENST00000654939.1:c.2734G>T | ||
| ENST00000656230.1:c.4088G>T | ENSP00000499561.1:p.Ser1363Ile | |
| ENST00000659264.1:c.3515G>T | ENSP00000499270.1:p.Ser1172Ile | |
| ENST00000338508.8:c.3461G>T | ENSP00000345193.6:p.Ser1154Ile | |
| ENST00000357171.7:c.*229G>T | ENSP00000349694.4:n.*229G>T | |
| ENST00000409161.5:c.3437G>T | ENSP00000386491.1:p.Ser1146Ile | |
| ENST00000412252.5:c.1001G>T | ||
| ENST00000423696.6:c.4088G>T | ENSP00000394536.2:p.Ser1363Ile | |
| ENST00000424924.5:c.3062G>T | ENSP00000402944.1:p.Ser1021Ile | |
| ENST00000449833.6:c.3461G>T | ENSP00000399423.3:p.Ser1154Ile | |
| ENST00000601538.5:c.5225G>T | ENSP00000469689.2:p.Ser1742Ile | |
| ENST00000606715.3:n.1977G>T | ||
| NM_012309.4:c.5225G>T | NP_036441.2:p.Ser1742Ile | |
| NM_133266.4:c.3461G>T | NP_573573.2:p.Ser1154Ile | |
| NR_110766.1:n.1079G>T | ||
| XM_005277930.2:c.5225G>T | XP_005277987.1:p.Ser1742Ile | |
| XM_005277932.2:c.4088G>T | XP_005277989.1:p.Ser1363Ile | |
| XM_006718478.2:c.5195G>T | XP_006718541.1:p.Ser1732Ile | |
| XM_011544854.1:c.5237G>T | XP_011543156.1:p.Ser1746Ile | |
| XM_011544855.1:c.5216G>T | XP_011543157.1:p.Ser1739Ile | |
| XM_011544856.1:c.5210G>T | XP_011543158.1:p.Ser1737Ile | |
| XM_011544857.1:c.5189G>T | XP_011543159.1:p.Ser1730Ile | |
| XM_011544859.1:c.4100G>T | XP_011543161.1:p.Ser1367Ile | |
| XM_005277932.3:c.4088G>T | XP_005277989.1:p.Ser1363Ile | |
| XM_017017387.1:c.5225G>T | XP_016872876.1:p.Ser1742Ile | |
| XM_017017388.1:c.5225G>T | XP_016872877.1:p.Ser1742Ile | |
| XM_017017389.1:c.5198G>T | XP_016872878.1:p.Ser1733Ile | |
| XM_017017390.1:c.3515G>T | XP_016872879.1:p.Ser1172Ile | |
| NM_133266.5:c.3461G>T | NP_573573.2:p.Ser1154Ile | |
| NR_110766.2:n.1080G>T | ||
| NM_001379226.1:c.4088G>T | NP_001366155.1:p.Ser1363Ile | |
| NM_012309.5:c.5225G>T MANE Select | NP_036441.2:p.Ser1742Ile |