Linked Data
ClinVar Variation Id:
46564
ClinVar RCV Id:
RCV000039834
RCV000267485
RCV000338141
RCV000357594
RCV000408207
RCV001582525
RCV001582526
RCV001521762
dbSNP Id:
rs2855436
ExAC:
6:33139475 T / G
gnomAD v2:
6-33139475-T-G
gnomAD v3:
6-33171698-T-G
gnomAD v4:
6-33171698-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171698T>G , CM000668.2:g.33171698T>G | GRCh38 |
| NC_000006.11:g.33139475T>G , CM000668.1:g.33139475T>G | GRCh37 |
| NC_000006.10:g.33247453T>G | NCBI36 |
| NG_011589.1:g.25771A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3150+15A>C MANE Select | ENSP00000339915.2:n.3150+15A>C | |
| ENST00000341947.6:c.3150+15A>C | ENSP00000339915.2:n.3150+15A>C | |
| ENST00000361917.5:c.2829+15A>C | ENSP00000355123.1:n.2829+15A>C | |
| ENST00000374708.8:c.2892+15A>C | ENSP00000363840.4:n.2892+15A>C | |
| ENST00000477772.1:n.272+5311A>C | ||
| NM_080679.2:c.2829+15A>C | NP_542410.2:n.2829+15A>C | |
| NM_080680.2:c.3150+15A>C | NP_542411.2:n.3150+15A>C | |
| NM_080681.2:c.2892+15A>C | NP_542412.2:n.2892+15A>C | |
| XM_011514298.1:c.2304+15A>C | XP_011512600.1:n.2304+15A>C | |
| XM_011514299.1:c.2436+15A>C | XP_011512601.1:n.2436+15A>C | |
| XM_011514300.1:c.2256+15A>C | XP_011512602.1:n.2256+15A>C | |
| XM_011514301.1:c.2193+15A>C | XP_011512603.1:n.2193+15A>C | |
| XM_011514302.1:c.2037+15A>C | XP_011512604.1:n.2037+15A>C | |
| XM_011514299.2:c.2436+15A>C | XP_011512601.1:n.2436+15A>C | |
| XM_011514300.2:c.2256+15A>C | XP_011512602.1:n.2256+15A>C | |
| XM_011514302.2:c.2037+15A>C | XP_011512604.1:n.2037+15A>C | |
| XM_017010250.1:c.3150+15A>C | XP_016865739.1:n.3150+15A>C | |
| XM_017010251.2:c.1968+15A>C | XP_016865740.1:n.1968+15A>C | |
| NM_080680.3:c.3150+15A>C MANE Select | NP_542411.2:n.3150+15A>C | |
| NM_080681.3:c.2892+15A>C | NP_542412.2:n.2892+15A>C | |
| NM_080679.3:c.2829+15A>C | NP_542410.2:n.2829+15A>C |