Linked Data
ClinVar Variation Id:
209010
ClinVar RCV Id:
RCV000186568
dbSNP Id:
rs142800871
ExAC:
6:159407455 T / C
gnomAD v2:
6-159407455-T-C
gnomAD v3:
6-158986423-T-C
gnomAD v4:
6-158986423-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158986423T>C , CM000668.2:g.158986423T>C | GRCh38 |
| NC_000006.11:g.159407455T>C , CM000668.1:g.159407455T>C | GRCh37 |
| NC_000006.10:g.159327443T>C | NCBI36 |
| NG_051819.1:g.18765A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367069.7:c.205-2A>G MANE Select | ENSP00000356036.1:n.205-2A>G | |
| ENST00000252655.1:c.631-2A>G | ENSP00000252655.1:n.631-2A>G | |
| ENST00000367069.6:c.205-2A>G | ENSP00000356036.1:n.205-2A>G | |
| ENST00000449822.5:c.205-3735A>G | ENSP00000393195.1:n.205-3735A>G | |
| NM_031924.4:c.631-2A>G | NP_114130.3:n.631-2A>G | |
| XM_005267153.3:c.631-3735A>G | XP_005267210.1:n.631-3735A>G | |
| XR_245553.2:n.1087-2A>G | ||
| NM_001346418.1:c.631-3735A>G | NP_001333347.1:n.631-3735A>G | |
| NM_031924.5:c.631-2A>G | NP_114130.3:n.631-2A>G | |
| NR_144434.1:n.842-2A>G | ||
| XM_017011347.2:c.-44-2616A>G | XP_016866836.1:n.-44-2616A>G | |
| XM_024446566.1:c.-186-2A>G | XP_024302334.1:n.-186-2A>G | |
| XR_001743668.2:n.1081-2A>G | ||
| XR_001743669.2:n.1081-2A>G | ||
| XR_001743670.2:n.1081-3735A>G | ||
| XR_001743671.2:n.429-2616A>G | ||
| NM_031924.6:c.631-2A>G | NP_114130.3:n.631-2A>G | |
| NM_031924.8:c.205-2A>G MANE Select | NP_114130.4:n.205-2A>G |