Linked Data
ClinVar Variation Id:
1607142
ClinVar RCV Id:
RCV002152318
dbSNP Id:
rs1339795281
gnomAD v2:
6-33138877-G-A
gnomAD v3:
6-33171100-G-A
gnomAD v4:
6-33171100-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171100G>A , CM000668.2:g.33171100G>A | GRCh38 |
| NC_000006.11:g.33138877G>A , CM000668.1:g.33138877G>A | GRCh37 |
| NC_000006.10:g.33246855G>A | NCBI36 |
| NG_011589.1:g.26369C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3366+14C>T MANE Select | ENSP00000339915.2:n.3366+14C>T | |
| ENST00000341947.6:c.3366+14C>T | ENSP00000339915.2:n.3366+14C>T | |
| ENST00000361917.5:c.3045+14C>T | ENSP00000355123.1:n.3045+14C>T | |
| ENST00000374708.8:c.3108+14C>T | ENSP00000363840.4:n.3108+14C>T | |
| ENST00000477772.1:n.273-5284C>T | ||
| NM_080679.2:c.3045+14C>T | NP_542410.2:n.3045+14C>T | |
| NM_080680.2:c.3366+14C>T | NP_542411.2:n.3366+14C>T | |
| NM_080681.2:c.3108+14C>T | NP_542412.2:n.3108+14C>T | |
| XM_011514298.1:c.2520+14C>T | XP_011512600.1:n.2520+14C>T | |
| XM_011514299.1:c.2652+14C>T | XP_011512601.1:n.2652+14C>T | |
| XM_011514300.1:c.2472+14C>T | XP_011512602.1:n.2472+14C>T | |
| XM_011514301.1:c.2409+14C>T | XP_011512603.1:n.2409+14C>T | |
| XM_011514302.1:c.2253+14C>T | XP_011512604.1:n.2253+14C>T | |
| XM_011514299.2:c.2652+14C>T | XP_011512601.1:n.2652+14C>T | |
| XM_011514300.2:c.2472+14C>T | XP_011512602.1:n.2472+14C>T | |
| XM_011514302.2:c.2253+14C>T | XP_011512604.1:n.2253+14C>T | |
| XM_017010250.1:c.3366+14C>T | XP_016865739.1:n.3366+14C>T | |
| XM_017010251.2:c.2184+14C>T | XP_016865740.1:n.2184+14C>T | |
| NM_080680.3:c.3366+14C>T MANE Select | NP_542411.2:n.3366+14C>T | |
| NM_080681.3:c.3108+14C>T | NP_542412.2:n.3108+14C>T | |
| NM_080679.3:c.3045+14C>T | NP_542410.2:n.3045+14C>T |