Linked Data
ClinVar Variation Id:
217187
ClinVar RCV Id:
RCV000201171
dbSNP Id:
rs863224989
gnomAD v4:
X-32823389-T-C
PubMed:
PMID:17253928
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32823389T>C , CM000685.2:g.32823389T>C | GRCh38 |
| NC_000023.10:g.32841506T>C , CM000685.1:g.32841506T>C | GRCh37 |
| NC_000023.9:g.32751427T>C | NCBI36 |
| NG_012232.1:g.521221A>G , LRG_199:g.521221A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682071.1:c.-105-2A>G | ENSP00000508133.1:n.-105-2A>G | |
| ENST00000682437.1:n.589-2A>G | ||
| ENST00000682584.1:n.589-2A>G | ||
| ENST00000682870.1:n.450-2A>G | ||
| ENST00000682899.1:n.472-2A>G | ||
| ENST00000682924.1:c.265-2A>G | ENSP00000508187.1:n.265-2A>G | |
| ENST00000683309.1:n.449-2A>G | ||
| ENST00000683658.1:n.610-2A>G | ||
| ENST00000683985.1:n.472-2A>G | ||
| ENST00000684056.1:n.449-2A>G | ||
| ENST00000684165.1:n.472-2A>G | ||
| ENST00000684237.1:c.265-2A>G | ENSP00000507277.1:n.265-2A>G | |
| ENST00000684292.1:n.472-2A>G | ||
| ENST00000684357.1:n.449-2A>G | ||
| ENST00000684660.1:n.450-2A>G | ||
| ENST00000288447.9:c.241-2A>G | ENSP00000288447.4:n.241-2A>G | |
| ENST00000357033.9:c.265-2A>G MANE Select | ENSP00000354923.3:n.265-2A>G | |
| ENST00000288447.8:c.241-2A>G | ENSP00000288447.4:n.241-2A>G | |
| ENST00000357033.8:c.265-2A>G | ENSP00000354923.3:n.265-2A>G | |
| ENST00000378677.6:c.253-2A>G | ENSP00000367948.2:n.253-2A>G | |
| ENST00000420596.5:c.93+196750A>G | ENSP00000399897.1:n.93+196750A>G | |
| ENST00000447523.1:c.154-2A>G | ENSP00000395904.1:n.154-2A>G | |
| ENST00000448370.5:c.93+196750A>G | ENSP00000388559.1:n.93+196750A>G | |
| ENST00000488902.5:n.335+196750A>G | ||
| ENST00000619831.4:c.253-2A>G | ENSP00000479270.1:n.253-2A>G | |
| ENST00000620040.4:c.265-2A>G | ENSP00000478150.1:n.265-2A>G | |
| NM_000109.3:c.241-2A>G | NP_000100.2:n.241-2A>G | |
| NM_004006.2:c.265-2A>G , LRG_199t1:c.265-2A>G | NP_003997.1:n.265-2A>G | |
| NM_004009.3:c.253-2A>G | NP_004000.1:n.253-2A>G | |
| NM_004010.3:c.-105-2A>G | NP_004001.1:n.-105-2A>G | |
| XM_006724468.2:c.265-2A>G | XP_006724531.1:n.265-2A>G | |
| XM_006724469.2:c.241-2A>G | XP_006724532.1:n.241-2A>G | |
| XM_006724470.2:c.265-2A>G | XP_006724533.1:n.265-2A>G | |
| XM_006724471.2:c.265-2A>G | XP_006724534.1:n.265-2A>G | |
| XM_006724472.2:c.265-2A>G | XP_006724535.1:n.265-2A>G | |
| XM_006724473.2:c.265-2A>G | XP_006724536.1:n.265-2A>G | |
| XM_006724474.2:c.265-2A>G | XP_006724537.1:n.265-2A>G | |
| XM_006724475.2:c.265-2A>G | XP_006724538.1:n.265-2A>G | |
| XM_011545467.1:c.265-2A>G | XP_011543769.1:n.265-2A>G | |
| XM_011545468.1:c.265-2A>G | XP_011543770.1:n.265-2A>G | |
| XM_011545469.1:c.265-2A>G | XP_011543771.1:n.265-2A>G | |
| XM_006724469.3:c.241-2A>G | XP_006724532.1:n.241-2A>G | |
| XM_006724470.3:c.265-2A>G | XP_006724533.1:n.265-2A>G | |
| XM_006724474.3:c.265-2A>G | XP_006724537.1:n.265-2A>G | |
| XM_011545468.2:c.265-2A>G | XP_011543770.1:n.265-2A>G | |
| XM_017029328.1:c.265-2A>G | XP_016884817.1:n.265-2A>G | |
| XM_017029329.1:c.265-2A>G | XP_016884818.1:n.265-2A>G | |
| XM_017029330.2:c.265-2A>G | XP_016884819.1:n.265-2A>G | |
| NM_000109.4:c.241-2A>G | NP_000100.3:n.241-2A>G | |
| NM_004006.3:c.265-2A>G MANE Select | NP_003997.2:n.265-2A>G |