Linked Data
ClinVar Variation Id:
194741
ClinVar RCV Id:
RCV000175178
RCV000630637
RCV000853043
RCV001168819
RCV001762398
RCV001826882
RCV002415750
dbSNP Id:
rs202008454
ExAC:
X:32563348 G / C
gnomAD v2:
X-32563348-G-C
gnomAD v3:
X-32545231-G-C
gnomAD v4:
X-32545231-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32545231G>C , CM000685.2:g.32545231G>C | GRCh38 |
| NC_000023.10:g.32563348G>C , CM000685.1:g.32563348G>C | GRCh37 |
| NC_000023.9:g.32473269G>C | NCBI36 |
| NG_012232.1:g.799379C>G , LRG_199:g.799379C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682899.1:n.2303C>G | ||
| ENST00000683985.1:n.2303C>G | ||
| ENST00000288447.9:c.2072C>G | ENSP00000288447.4:p.Ala691Gly | |
| ENST00000357033.9:c.2096C>G MANE Select | ENSP00000354923.3:p.Ala699Gly | |
| ENST00000288447.8:c.2072C>G | ENSP00000288447.4:p.Ala691Gly | |
| ENST00000357033.8:c.2096C>G | ENSP00000354923.3:p.Ala699Gly | |
| ENST00000378677.6:c.2084C>G | ENSP00000367948.2:p.Ala695Gly | |
| ENST00000420596.5:c.94-180032C>G | ENSP00000399897.1:n.94-180032C>G | |
| ENST00000448370.5:c.94-180521C>G | ENSP00000388559.1:n.94-180521C>G | |
| ENST00000488902.5:n.336-328168C>G | ||
| ENST00000619831.4:c.2084C>G | ENSP00000479270.1:p.Ala695Gly | |
| ENST00000620040.4:c.2096C>G | ENSP00000478150.1:p.Ala699Gly | |
| NM_000109.3:c.2072C>G | NP_000100.2:p.Ala691Gly | |
| NM_004006.2:c.2096C>G , LRG_199t1:c.2096C>G | NP_003997.1:p.Ala699Gly | |
| NM_004009.3:c.2084C>G | NP_004000.1:p.Ala695Gly | |
| NM_004010.3:c.1727C>G | NP_004001.1:p.Ala576Gly | |
| XM_006724468.2:c.2096C>G | XP_006724531.1:p.Ala699Gly | |
| XM_006724469.2:c.2072C>G | XP_006724532.1:p.Ala691Gly | |
| XM_006724470.2:c.2096C>G | XP_006724533.1:p.Ala699Gly | |
| XM_006724471.2:c.2096C>G | XP_006724534.1:p.Ala699Gly | |
| XM_006724472.2:c.1967C>G | XP_006724535.1:p.Ala656Gly | |
| XM_006724473.2:c.2096C>G | XP_006724536.1:p.Ala699Gly | |
| XM_006724474.2:c.2096C>G | XP_006724537.1:p.Ala699Gly | |
| XM_006724475.2:c.2096C>G | XP_006724538.1:p.Ala699Gly | |
| XM_011545467.1:c.2096C>G | XP_011543769.1:p.Ala699Gly | |
| XM_011545468.1:c.2096C>G | XP_011543770.1:p.Ala699Gly | |
| XM_011545469.1:c.2096C>G | XP_011543771.1:p.Ala699Gly | |
| XM_006724469.3:c.2072C>G | XP_006724532.1:p.Ala691Gly | |
| XM_006724470.3:c.2096C>G | XP_006724533.1:p.Ala699Gly | |
| XM_006724474.3:c.2096C>G | XP_006724537.1:p.Ala699Gly | |
| XM_011545468.2:c.2096C>G | XP_011543770.1:p.Ala699Gly | |
| XM_017029328.1:c.2096C>G | XP_016884817.1:p.Ala699Gly | |
| XM_017029329.1:c.2096C>G | XP_016884818.1:p.Ala699Gly | |
| XM_017029330.2:c.2096C>G | XP_016884819.1:p.Ala699Gly | |
| NM_000109.4:c.2072C>G | NP_000100.3:p.Ala691Gly | |
| NM_004006.3:c.2096C>G MANE Select | NP_003997.2:p.Ala699Gly |