Linked Data
ClinVar Variation Id:
195908
dbSNP Id:
rs189122492
ExAC:
2:166744987 G / C
gnomAD v2:
2-166744987-G-C
gnomAD v3:
2-165888477-G-C
gnomAD v4:
2-165888477-G-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165888477G>C , CM000664.2:g.165888477G>C | GRCh38 |
| NC_000002.11:g.166744987G>C , CM000664.1:g.166744987G>C | GRCh37 |
| NC_000002.10:g.166453233G>C | NCBI36 |
| NG_030345.1:g.70362C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.3264-3C>G MANE Select | ENSP00000243344.7:n.3264-3C>G | |
| ENST00000652557.1:c.3264-3C>G | ENSP00000498617.1:n.3264-3C>G | |
| ENST00000679356.1:c.3264-3C>G | ENSP00000506245.1:n.3264-3C>G | |
| ENST00000679676.1:c.3153-3C>G | ENSP00000505492.1:n.3153-3C>G | |
| ENST00000679799.1:c.3264-3C>G | ENSP00000505208.1:n.3264-3C>G | |
| ENST00000679840.1:c.3264-3C>G | ENSP00000505248.1:n.3264-3C>G | |
| ENST00000679931.1:c.*2306-3C>G | ENSP00000505632.1:n.*2306-3C>G | |
| ENST00000679967.1:c.3255-3C>G | ENSP00000506607.1:n.3255-3C>G | |
| ENST00000680327.1:c.*2306-3C>G | ENSP00000506639.1:n.*2306-3C>G | |
| ENST00000680657.1:n.3375-3C>G | ||
| ENST00000680690.1:c.*2516-3C>G | ENSP00000506121.1:n.*2516-3C>G | |
| ENST00000680888.1:c.3264-3C>G | ENSP00000506276.1:n.3264-3C>G | |
| ENST00000680925.1:n.1294-3C>G | ||
| ENST00000680947.1:c.*2536-3C>G | ENSP00000506496.1:n.*2536-3C>G | |
| ENST00000681024.1:c.3264-3C>G | ENSP00000506449.1:n.3264-3C>G | |
| ENST00000681083.1:c.*2998-3C>G | ENSP00000506095.1:n.*2998-3C>G | |
| ENST00000681167.1:n.3138-3C>G | ||
| ENST00000681483.1:c.*74-3C>G | ENSP00000505499.1:n.*74-3C>G | |
| ENST00000681502.1:c.*6524-3C>G | ENSP00000505644.1:n.*6524-3C>G | |
| ENST00000681819.1:c.*74-3C>G | ENSP00000505673.1:n.*74-3C>G | |
| ENST00000681952.1:c.3264-3C>G | ENSP00000506400.1:n.3264-3C>G | |
| ENST00000243344.7:c.3264-3C>G | ENSP00000243344.7:n.3264-3C>G | |
| ENST00000392695.6:c.164-3C>G | ||
| NM_024753.4:c.3264-3C>G | NP_079029.3:n.3264-3C>G | |
| XM_011511870.1:c.2697-3C>G | XP_011510172.1:n.2697-3C>G | |
| XM_011511871.1:c.2514-3C>G | XP_011510173.1:n.2514-3C>G | |
| XM_011511871.3:c.2514-3C>G | XP_011510173.1:n.2514-3C>G | |
| XM_011511872.2:c.*466-3C>G | XP_011510174.1:n.*466-3C>G | |
| XM_017004967.1:c.3264-3C>G | XP_016860456.1:n.3264-3C>G | |
| XM_017004968.2:c.2610-3C>G | XP_016860457.1:n.2610-3C>G | |
| XM_017004969.1:c.2265-3C>G | XP_016860458.1:n.2265-3C>G | |
| NM_024753.5:c.3264-3C>G MANE Select | NP_079029.3:n.3264-3C>G |