Linked Data
ClinVar Variation Id:
305913
dbSNP Id:
rs189053721
ExAC:
11:70805714 C / A
gnomAD v2:
11-70805714-C-A
gnomAD v3:
11-71094668-C-A
gnomAD v4:
11-71094668-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71094668C>A , CM000673.2:g.71094668C>A | GRCh38 |
| NC_000011.9:g.70805714C>A , CM000673.1:g.70805714C>A | GRCh37 |
| NC_000011.8:g.70483362C>A | NCBI36 |
| NG_042866.1:g.135129G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601538.6:c.613G>T MANE Select | ENSP00000469689.2:p.Ala205Ser | |
| ENST00000458632.2:c.21G>T | ||
| ENST00000601538.5:c.613G>T | ENSP00000469689.2:p.Ala205Ser | |
| ENST00000608988.5:c.*176G>T | ENSP00000476264.2:n.*176G>T | |
| NM_012309.4:c.613G>T | NP_036441.2:p.Ala205Ser | |
| XM_005277930.2:c.613G>T | XP_005277987.1:p.Ala205Ser | |
| XM_006718478.2:c.613G>T | XP_006718541.1:p.Ala205Ser | |
| XM_011544854.1:c.613G>T | XP_011543156.1:p.Ala205Ser | |
| XM_011544855.1:c.613G>T | XP_011543157.1:p.Ala205Ser | |
| XM_011544856.1:c.613G>T | XP_011543158.1:p.Ala205Ser | |
| XM_011544857.1:c.613G>T | XP_011543159.1:p.Ala205Ser | |
| XM_011544858.1:c.613G>T | XP_011543160.1:p.Ala205Ser | |
| XM_017017387.1:c.613G>T | XP_016872876.1:p.Ala205Ser | |
| XM_017017388.1:c.613G>T | XP_016872877.1:p.Ala205Ser | |
| XM_017017389.1:c.613G>T | XP_016872878.1:p.Ala205Ser | |
| NM_012309.5:c.613G>T MANE Select | NP_036441.2:p.Ala205Ser |