Linked Data
ClinVar Variation Id:
130656
dbSNP Id:
rs140384742
ExAC:
2:166737197 G / A
gnomAD v2:
2-166737197-G-A
gnomAD v3:
2-165880687-G-A
gnomAD v4:
2-165880687-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165880687G>A , CM000664.2:g.165880687G>A | GRCh38 |
| NC_000002.11:g.166737197G>A , CM000664.1:g.166737197G>A | GRCh37 |
| NC_000002.10:g.166445443G>A | NCBI36 |
| NG_030345.1:g.78152C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.3797C>T MANE Select | ENSP00000243344.7:p.Pro1266Leu | |
| ENST00000497425.2:n.906C>T | ||
| ENST00000652557.1:c.3797C>T | ENSP00000498617.1:p.Pro1266Leu | |
| ENST00000679356.1:c.3794C>T | ENSP00000506245.1:p.Pro1265Leu | |
| ENST00000679676.1:c.3686C>T | ENSP00000505492.1:p.Pro1229Leu | |
| ENST00000679799.1:c.3797C>T | ENSP00000505208.1:p.Pro1266Leu | |
| ENST00000679840.1:c.3797C>T | ENSP00000505248.1:p.Pro1266Leu | |
| ENST00000679931.1:c.*2839C>T | ENSP00000505632.1:n.*2839C>T | |
| ENST00000679967.1:c.3788C>T | ENSP00000506607.1:p.Pro1263Leu | |
| ENST00000680327.1:c.*2839C>T | ENSP00000506639.1:n.*2839C>T | |
| ENST00000680657.1:n.3908C>T | ||
| ENST00000680690.1:c.*3049C>T | ENSP00000506121.1:n.*3049C>T | |
| ENST00000680888.1:c.3797C>T | ENSP00000506276.1:p.Pro1266Leu | |
| ENST00000680925.1:n.1827C>T | ||
| ENST00000680947.1:c.*3069C>T | ENSP00000506496.1:n.*3069C>T | |
| ENST00000681024.1:c.3797C>T | ENSP00000506449.1:p.Pro1266Leu | |
| ENST00000681083.1:c.*3528C>T | ENSP00000506095.1:n.*3528C>T | |
| ENST00000681167.1:n.3675C>T | ||
| ENST00000681483.1:c.*607C>T | ENSP00000505499.1:n.*607C>T | |
| ENST00000681502.1:c.*7057C>T | ENSP00000505644.1:n.*7057C>T | |
| ENST00000681819.1:c.*607C>T | ENSP00000505673.1:n.*607C>T | |
| ENST00000681952.1:c.3797C>T | ENSP00000506400.1:p.Pro1266Leu | |
| ENST00000243344.7:c.3797C>T | ENSP00000243344.7:p.Pro1266Leu | |
| ENST00000392695.6:c.697C>T | ||
| ENST00000497425.1:n.275C>T | ||
| NM_024753.4:c.3797C>T | NP_079029.3:p.Pro1266Leu | |
| XM_011511870.1:c.3230C>T | XP_011510172.1:p.Pro1077Leu | |
| XM_011511871.1:c.3047C>T | XP_011510173.1:p.Pro1016Leu | |
| XM_011511871.3:c.3047C>T | XP_011510173.1:p.Pro1016Leu | |
| XM_011511872.2:c.*999C>T | XP_011510174.1:n.*999C>T | |
| XM_017004967.1:c.3797C>T | XP_016860456.1:p.Pro1266Leu | |
| XM_017004968.2:c.3143C>T | XP_016860457.1:p.Pro1048Leu | |
| XM_017004969.1:c.2798C>T | XP_016860458.1:p.Pro933Leu | |
| NM_024753.5:c.3797C>T MANE Select | NP_079029.3:p.Pro1266Leu |