Linked Data
ClinVar Variation Id:
674975
ClinVar RCV Id:
RCV000834304
dbSNP Id:
rs73408005
gnomAD v2:
6-33132314-G-A
gnomAD v3:
6-33164537-G-A
gnomAD v4:
6-33164537-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164537G>A , CM000668.2:g.33164537G>A | GRCh38 |
| NC_000006.11:g.33132314G>A , CM000668.1:g.33132314G>A | GRCh37 |
| NC_000006.10:g.33240292G>A | NCBI36 |
| NG_011589.1:g.32932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.670-64C>T | ||
| ENST00000341947.7:c.4864-64C>T MANE Select | ENSP00000339915.2:n.4864-64C>T | |
| ENST00000341947.6:c.4864-64C>T | ENSP00000339915.2:n.4864-64C>T | |
| ENST00000361917.5:c.4543-64C>T | ENSP00000355123.1:n.4543-64C>T | |
| ENST00000374708.8:c.4606-64C>T | ENSP00000363840.4:n.4606-64C>T | |
| ENST00000477772.1:n.654-64C>T | ||
| NM_080679.2:c.4543-64C>T | NP_542410.2:n.4543-64C>T | |
| NM_080680.2:c.4864-64C>T | NP_542411.2:n.4864-64C>T | |
| NM_080681.2:c.4606-64C>T | NP_542412.2:n.4606-64C>T | |
| XM_011514298.1:c.4018-64C>T | XP_011512600.1:n.4018-64C>T | |
| XM_011514299.1:c.4150-64C>T | XP_011512601.1:n.4150-64C>T | |
| XM_011514300.1:c.3970-64C>T | XP_011512602.1:n.3970-64C>T | |
| XM_011514301.1:c.3907-64C>T | XP_011512603.1:n.3907-64C>T | |
| XM_011514302.1:c.3751-64C>T | XP_011512604.1:n.3751-64C>T | |
| XM_011514299.2:c.4150-64C>T | XP_011512601.1:n.4150-64C>T | |
| XM_011514300.2:c.3970-64C>T | XP_011512602.1:n.3970-64C>T | |
| XM_011514302.2:c.3751-64C>T | XP_011512604.1:n.3751-64C>T | |
| XM_017010250.1:c.4864-64C>T | XP_016865739.1:n.4864-64C>T | |
| XM_017010251.2:c.3682-64C>T | XP_016865740.1:n.3682-64C>T | |
| NM_080680.3:c.4864-64C>T MANE Select | NP_542411.2:n.4864-64C>T | |
| NM_080681.3:c.4606-64C>T | NP_542412.2:n.4606-64C>T | |
| NM_080679.3:c.4543-64C>T | NP_542410.2:n.4543-64C>T |