Linked Data
ClinVar Variation Id:
262309
ClinVar RCV Id:
RCV000254265
RCV000834097
RCV001582878
RCV001582879
RCV001582881
RCV001582880
RCV001582882
dbSNP Id:
rs2744512
ExAC:
6:33141920 G / C
gnomAD v2:
6-33141920-G-C
gnomAD v3:
6-33174143-G-C
gnomAD v4:
6-33174143-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33174143G>C , CM000668.2:g.33174143G>C | GRCh38 |
| NC_000006.11:g.33141920G>C , CM000668.1:g.33141920G>C | GRCh37 |
| NC_000006.10:g.33249898G>C | NCBI36 |
| NG_011589.1:g.23326C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.1057+22C>G | ||
| ENST00000341947.7:c.2484+22C>G MANE Select | ENSP00000339915.2:n.2484+22C>G | |
| ENST00000341947.6:c.2484+22C>G | ENSP00000339915.2:n.2484+22C>G | |
| ENST00000361917.5:c.2163+22C>G | ENSP00000355123.1:n.2163+22C>G | |
| ENST00000374708.8:c.2226+22C>G | ENSP00000363840.4:n.2226+22C>G | |
| ENST00000477772.1:n.272+2866C>G | ||
| NM_080679.2:c.2163+22C>G | NP_542410.2:n.2163+22C>G | |
| NM_080680.2:c.2484+22C>G | NP_542411.2:n.2484+22C>G | |
| NM_080681.2:c.2226+22C>G | NP_542412.2:n.2226+22C>G | |
| XM_011514298.1:c.1638+22C>G | XP_011512600.1:n.1638+22C>G | |
| XM_011514299.1:c.1770+22C>G | XP_011512601.1:n.1770+22C>G | |
| XM_011514300.1:c.1590+22C>G | XP_011512602.1:n.1590+22C>G | |
| XM_011514301.1:c.1527+22C>G | XP_011512603.1:n.1527+22C>G | |
| XM_011514302.1:c.1371+22C>G | XP_011512604.1:n.1371+22C>G | |
| XM_011514299.2:c.1770+22C>G | XP_011512601.1:n.1770+22C>G | |
| XM_011514300.2:c.1590+22C>G | XP_011512602.1:n.1590+22C>G | |
| XM_011514302.2:c.1371+22C>G | XP_011512604.1:n.1371+22C>G | |
| XM_017010250.1:c.2484+22C>G | XP_016865739.1:n.2484+22C>G | |
| XM_017010251.2:c.1302+22C>G | XP_016865740.1:n.1302+22C>G | |
| NM_080680.3:c.2484+22C>G MANE Select | NP_542411.2:n.2484+22C>G | |
| NM_080681.3:c.2226+22C>G | NP_542412.2:n.2226+22C>G | |
| NM_080679.3:c.2163+22C>G | NP_542410.2:n.2163+22C>G |