Linked Data
ClinVar Variation Id:
3146997
ClinVar RCV Id:
RCV004442367
dbSNP Id:
rs771521928
gnomAD v2:
14-104029340-T-C
gnomAD v3:
14-103563003-T-C
gnomAD v4:
14-103563003-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103563003T>C , CM000676.2:g.103563003T>C | GRCh38 |
| NC_000014.8:g.104029340T>C , CM000676.1:g.104029340T>C | GRCh37 |
| NC_000014.7:g.103099093T>C | NCBI36 |
| NG_041786.1:g.5047T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409074.8:c.2T>C (COA8) MANE Select | ENSP00000386485.3:p.Met1Thr | |
| ENST00000440963.2:c.2T>C (COA8) | ENSP00000388067.2:p.Met1Thr | |
| ENST00000458117.6:c.2T>C (COA8) | ENSP00000408525.2:p.Met1Thr | |
| ENST00000472726.3:c.2T>C | ENSP00000439065.2:p.Met1Thr | |
| ENST00000674165.1:c.41T>C (COA8) | ENSP00000501341.1:p.Met14Thr | |
| ENST00000409074.6:c.41T>C (COA8) | ENSP00000386485.2:p.Met14Thr | |
| ENST00000440963.1:c.39T>C (COA8) | ENSP00000388067.1:p.His13= | |
| ENST00000458117.5:c.25T>C (COA8) | ||
| ENST00000472726.2:c.41T>C | ENSP00000439065.1:p.Met14Thr | |
| ENST00000554625.5:n.22T>C (COA8) | ||
| ENST00000556253.6:c.2T>C (COA8) | ENSP00000451874.2:p.Met1Thr | |
| ENST00000557172.5:c.-2+1019T>C (KLC1) | ENSP00000450786.1:n.-2+1019T>C | |
| NM_001302652.1:c.41T>C (COA8) | NP_001289581.1:p.Met14Thr | |
| NM_001302653.1:c.41T>C (COA8) | NP_001289582.1:p.Met14Thr | |
| NM_001302654.1:c.41T>C (COA8) | NP_001289583.1:p.Met14Thr | |
| NM_032374.4:c.41T>C (COA8) | NP_115750.2:p.Met14Thr | |
| NR_126431.1:n.47T>C (COA8) | ||
| NR_126432.1:n.47T>C (COA8) | ||
| NM_001302652.2:c.2T>C (COA8) | NP_001289581.2:p.Met1Thr | |
| NM_001302653.2:c.2T>C (COA8) | NP_001289582.2:p.Met1Thr | |
| NM_001302654.2:c.2T>C (COA8) | NP_001289583.2:p.Met1Thr | |
| NM_001370595.2:c.2T>C (COA8) MANE Select | NP_001357524.1:p.Met1Thr | |
| NR_126431.2:n.44T>C (COA8) | ||
| NR_126432.2:n.44T>C (COA8) |