Linked Data
ClinVar Variation Id:
93249
ClinVar RCV Id:
RCV000079126
RCV000260031
RCV000355907
RCV000252273
RCV000415696
RCV000354942
RCV001083097
RCV002051651
dbSNP Id:
rs193922854
ExAC:
19:39055853 G / C
gnomAD v2:
19-39055853-G-C
gnomAD v3:
19-38565213-G-C
gnomAD v4:
19-38565213-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565213G>C , CM000681.2:g.38565213G>C | GRCh38 |
| NC_000019.9:g.39055853G>C , CM000681.1:g.39055853G>C | GRCh37 |
| NC_000019.8:g.43747693G>C | NCBI36 |
| NG_008866.1:g.136514G>C , LRG_766:g.136514G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.1289G>C | ||
| ENST00000689936.1:c.1271G>C | ||
| ENST00000359596.8:c.12879G>C MANE Select | ENSP00000352608.2:p.Ala4293= | |
| ENST00000355481.8:c.12864G>C | ENSP00000347667.3:p.Ala4288= | |
| ENST00000359596.7:c.12879G>C | ENSP00000352608.2:p.Ala4293= | |
| ENST00000360985.7:c.12861G>C | ENSP00000354254.4:p.Ala4287= | |
| ENST00000594335.5:c.6248G>C | ||
| NM_000540.2:c.12879G>C , LRG_766t1:c.12879G>C | NP_000531.2:p.Ala4293= | |
| NM_001042723.1:c.12864G>C | NP_001036188.1:p.Ala4288= | |
| XM_006723317.1:c.12861G>C | XP_006723380.1:p.Ala4287= | |
| XM_006723319.1:c.12846G>C | XP_006723382.1:p.Ala4282= | |
| XM_011527204.1:c.12876G>C | XP_011525506.1:p.Ala4292= | |
| XM_011527205.1:c.12879G>C | XP_011525507.1:p.Ala4293= | |
| XM_006723317.2:c.12861G>C | XP_006723380.1:p.Ala4287= | |
| XM_006723319.2:c.12846G>C | XP_006723382.1:p.Ala4282= | |
| XM_011527205.2:c.12879G>C | XP_011525507.1:p.Ala4293= | |
| NM_000540.3:c.12879G>C MANE Select | NP_000531.2:p.Ala4293= | |
| NM_001042723.2:c.12864G>C | NP_001036188.1:p.Ala4288= |