Linked Data
ClinVar Variation Id:
227272
ClinVar RCV Id:
RCV000222702
RCV000284515
RCV000345137
RCV000346515
RCV000407039
RCV000840675
RCV002277577
RCV003929887
dbSNP Id:
rs555680585
ExAC:
6:33132750 T / C
gnomAD v2:
6-33132750-T-C
gnomAD v3:
6-33164973-T-C
gnomAD v4:
6-33164973-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164973T>C , CM000668.2:g.33164973T>C | GRCh38 |
| NC_000006.11:g.33132750T>C , CM000668.1:g.33132750T>C | GRCh37 |
| NC_000006.10:g.33240728T>C | NCBI36 |
| NG_011589.1:g.32496A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.557-9A>G | ||
| ENST00000341947.7:c.4751-9A>G MANE Select | ENSP00000339915.2:n.4751-9A>G | |
| ENST00000341947.6:c.4751-9A>G | ENSP00000339915.2:n.4751-9A>G | |
| ENST00000361917.5:c.4430-9A>G | ENSP00000355123.1:n.4430-9A>G | |
| ENST00000374708.8:c.4493-9A>G | ENSP00000363840.4:n.4493-9A>G | |
| ENST00000477772.1:n.541-9A>G | ||
| NM_080679.2:c.4430-9A>G | NP_542410.2:n.4430-9A>G | |
| NM_080680.2:c.4751-9A>G | NP_542411.2:n.4751-9A>G | |
| NM_080681.2:c.4493-9A>G | NP_542412.2:n.4493-9A>G | |
| XM_011514298.1:c.3905-9A>G | XP_011512600.1:n.3905-9A>G | |
| XM_011514299.1:c.4037-9A>G | XP_011512601.1:n.4037-9A>G | |
| XM_011514300.1:c.3857-9A>G | XP_011512602.1:n.3857-9A>G | |
| XM_011514301.1:c.3794-9A>G | XP_011512603.1:n.3794-9A>G | |
| XM_011514302.1:c.3638-9A>G | XP_011512604.1:n.3638-9A>G | |
| XM_011514299.2:c.4037-9A>G | XP_011512601.1:n.4037-9A>G | |
| XM_011514300.2:c.3857-9A>G | XP_011512602.1:n.3857-9A>G | |
| XM_011514302.2:c.3638-9A>G | XP_011512604.1:n.3638-9A>G | |
| XM_017010250.1:c.4751-9A>G | XP_016865739.1:n.4751-9A>G | |
| XM_017010251.2:c.3569-9A>G | XP_016865740.1:n.3569-9A>G | |
| NM_080680.3:c.4751-9A>G MANE Select | NP_542411.2:n.4751-9A>G | |
| NM_080681.3:c.4493-9A>G | NP_542412.2:n.4493-9A>G | |
| NM_080679.3:c.4430-9A>G | NP_542410.2:n.4430-9A>G |