Linked Data
dbSNP Id:
rs368770402
ExAC:
5:11384945 C / G
gnomAD v2:
5-11384945-C-G
gnomAD v4:
5-11384833-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.11384833C>G , CM000667.2:g.11384833C>G | GRCh38 |
| NC_000005.9:g.11384945C>G , CM000667.1:g.11384945C>G | GRCh37 |
| NC_000005.8:g.11437945C>G | NCBI36 |
| NG_023544.1:g.524166G>C | |
| NG_023544.2:g.524166G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706271.1:c.167-19943G>C | ENSP00000516315.1:n.167-19943G>C | |
| ENST00000706272.1:c.81G>C | ||
| ENST00000304623.13:c.1009G>C MANE Select | ENSP00000307134.8:p.Val337Leu | |
| ENST00000304623.12:c.1009G>C | ENSP00000307134.8:p.Val337Leu | |
| ENST00000502551.5:c.398-19943G>C | ENSP00000422389.1:n.398-19943G>C | |
| ENST00000503622.5:c.167-19943G>C | ENSP00000426887.1:n.167-19943G>C | |
| ENST00000504354.5:n.217-19943G>C | ||
| ENST00000504499.5:c.612+12198G>C | ENSP00000421000.1:n.612+12198G>C | |
| ENST00000506735.1:n.80G>C | ||
| ENST00000507430.1:n.105G>C | ||
| ENST00000511278.5:n.542-19943G>C | ||
| ENST00000511377.5:c.736G>C | ENSP00000426510.1:p.Val246Leu | |
| ENST00000513588.5:c.440-19943G>C | ENSP00000421093.1:n.440-19943G>C | |
| NM_001288715.1:c.736G>C | NP_001275644.1:p.Val246Leu | |
| NM_001288716.1:c.167-19943G>C | NP_001275645.1:n.167-19943G>C | |
| NM_001288717.1:c.-123+12198G>C | NP_001275646.1:n.-123+12198G>C | |
| NM_001332.3:c.1009G>C | NP_001323.1:p.Val337Leu | |
| NR_109988.1:n.630-19943G>C | ||
| XM_005248251.2:c.1009G>C | XP_005248308.1:p.Val337Leu | |
| XM_005248252.1:c.967G>C | XP_005248309.1:p.Val323Leu | |
| XM_005248253.1:c.736G>C | XP_005248310.1:p.Val246Leu | |
| XM_011513967.1:c.736G>C | XP_011512269.1:p.Val246Leu | |
| NM_001364128.1:c.167-19943G>C | NP_001351057.1:n.167-19943G>C | |
| XM_005248251.3:c.1009G>C | XP_005248308.1:p.Val337Leu | |
| XM_005248252.2:c.967G>C | XP_005248309.1:p.Val323Leu | |
| XM_011513967.2:c.736G>C | XP_011512269.1:p.Val246Leu | |
| XM_017009072.1:c.440-19943G>C | XP_016864561.1:n.440-19943G>C | |
| XM_017009073.1:c.398-19943G>C | XP_016864562.1:n.398-19943G>C | |
| XM_017009074.1:c.440-19943G>C | XP_016864563.1:n.440-19943G>C | |
| XM_017009075.2:c.167-19943G>C | XP_016864564.1:n.167-19943G>C | |
| XM_024454368.1:c.-407G>C | XP_024310136.1:n.-407G>C | |
| NM_001332.4:c.1009G>C MANE Select | NP_001323.1:p.Val337Leu | |
| NM_001288717.2:c.-123+12198G>C | NP_001275646.1:n.-123+12198G>C | |
| NR_109988.2:n.1033-19943G>C | ||
| NM_001364128.2:c.167-19943G>C | NP_001351057.1:n.167-19943G>C |