Linked Data
ClinVar Variation Id:
333314
ClinVar RCV Id:
RCV000313519
dbSNP Id:
rs59701865
gnomAD v2:
2-198364491-G-T
gnomAD v3:
2-197499767-G-T
gnomAD v4:
2-197499767-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197499767G>T , CM000664.2:g.197499767G>T | GRCh38 |
| NC_000002.11:g.198364491G>T , CM000664.1:g.198364491G>T | GRCh37 |
| NC_000002.10:g.198072736G>T | NCBI36 |
| NG_008914.1:g.4771G>T | |
| NG_008915.1:g.5508C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388968.8:c.-3+15C>A MANE Select | ENSP00000373620.3:n.-3+15C>A | |
| ENST00000418022.2:c.-300+15C>A | ENSP00000412227.2:n.-300+15C>A | |
| ENST00000426480.2:c.-2-917C>A | ENSP00000414446.2:n.-2-917C>A | |
| ENST00000428204.6:c.-183+15C>A | ENSP00000396460.2:n.-183+15C>A | |
| ENST00000430176.6:c.-3+393C>A | ENSP00000393670.2:n.-3+393C>A | |
| ENST00000439605.2:c.-275+15C>A | ENSP00000402478.2:n.-275+15C>A | |
| ENST00000440114.2:c.-3+15C>A | ENSP00000390404.1:n.-3+15C>A | |
| ENST00000452200.6:c.-3+232C>A | ENSP00000412717.2:n.-3+232C>A | |
| ENST00000461097.2:n.36+15C>A | ||
| ENST00000476746.6:n.99+15C>A | ||
| ENST00000676933.1:c.-3+15C>A | ENSP00000503144.1:n.-3+15C>A | |
| ENST00000677403.1:c.-3+15C>A | ENSP00000504667.1:n.-3+15C>A | |
| ENST00000678170.1:c.-3+15C>A | ENSP00000503910.1:n.-3+15C>A | |
| ENST00000678545.1:c.-3+15C>A | ENSP00000502920.1:n.-3+15C>A | |
| ENST00000678621.1:c.-3+15C>A | ENSP00000504328.1:n.-3+15C>A | |
| ENST00000678969.1:n.98+15C>A | ||
| ENST00000679291.1:c.-3+232C>A | ENSP00000504417.1:n.-3+232C>A | |
| ENST00000345042.6:c.-3+393C>A | ENSP00000340019.2:n.-3+393C>A | |
| ENST00000388968.7:c.-3+15C>A | ENSP00000373620.3:n.-3+15C>A | |
| ENST00000418022.1:c.-300+15C>A | ENSP00000412227.1:n.-300+15C>A | |
| ENST00000426480.1:c.125-917C>A | ENSP00000414446.1:n.125-917C>A | |
| ENST00000428204.5:c.-183+15C>A | ENSP00000396460.1:n.-183+15C>A | |
| ENST00000430176.5:c.-3+393C>A | ENSP00000393670.1:n.-3+393C>A | |
| ENST00000439605.1:c.-275+15C>A | ENSP00000402478.1:n.-275+15C>A | |
| ENST00000440114.1:c.-3+15C>A | ENSP00000390404.1:n.-3+15C>A | |
| ENST00000452200.5:c.-3+232C>A | ENSP00000412717.1:n.-3+232C>A | |
| ENST00000461097.1:n.36+15C>A | ||
| ENST00000476746.5:n.98+15C>A | ||
| NM_002156.4:c.-3+15C>A | NP_002147.2:n.-3+15C>A | |
| NM_199440.1:c.-3+393C>A | NP_955472.1:n.-3+393C>A | |
| XM_005246518.2:c.-3+232C>A | XP_005246575.1:n.-3+232C>A | |
| NM_002156.5:c.-3+15C>A MANE Select | NP_002147.2:n.-3+15C>A | |
| NM_199440.2:c.-3+393C>A | NP_955472.1:n.-3+393C>A |