Linked Data
ClinVar Variation Id:
161523
ClinVar RCV Id:
RCV000149058
dbSNP Id:
rs193921040
gnomAD v2:
3-75787546-G-C
gnomAD v3:
3-75738395-G-C
gnomAD v4:
3-75738395-G-C
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.75738395G>C , CM000665.2:g.75738395G>C | GRCh38 |
| NC_000003.11:g.75787546G>C , CM000665.1:g.75787546G>C | GRCh37 |
| NG_047070.1:g.52189C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648506.1:n.832+2881C>G | ||
| ENST00000652011.2:c.1228C>G MANE Select | ENSP00000498738.1:p.Leu410Val | |
| ENST00000477374.5:c.277+2881C>G | ENSP00000417902.1:n.277+2881C>G | |
| ENST00000478296.5:c.1078C>G | ENSP00000419377.1:p.Leu360Val | |
| ENST00000491507.1:n.544+2881C>G | ||
| NM_001128223.1:c.1228C>G | NP_001121695.1:p.Leu410Val | |
| NM_001290208.1:c.1228C>G | NP_001277137.1:p.Leu410Val | |
| NM_001290209.1:c.1078C>G | NP_001277138.1:p.Leu360Val | |
| NM_001290210.1:c.277+2881C>G | NP_001277139.1:n.277+2881C>G | |
| XM_005264711.2:c.1228C>G | XP_005264768.1:p.Leu410Val | |
| XM_005264713.3:c.1228C>G | XP_005264770.1:p.Leu410Val | |
| XM_006712911.2:c.1228C>G | XP_006712974.1:p.Leu410Val | |
| XM_006712912.2:c.1207C>G | XP_006712975.1:p.Leu403Val | |
| XM_011533244.1:c.1330C>G | XP_011531546.1:p.Leu444Val | |
| XM_011533245.1:c.1264C>G | XP_011531547.1:p.Leu422Val | |
| XM_011533246.1:c.1330C>G | XP_011531548.1:p.Leu444Val | |
| XM_011533247.1:c.1330C>G | XP_011531549.1:p.Leu444Val | |
| XM_011533248.1:c.1330C>G | XP_011531550.1:p.Leu444Val | |
| XM_011533249.1:c.1330C>G | XP_011531551.1:p.Leu444Val | |
| XM_011533250.1:c.379+2881C>G | XP_011531552.1:n.379+2881C>G | |
| XM_011533251.1:c.379+2881C>G | XP_011531553.1:n.379+2881C>G | |
| NM_001128223.3:c.1228C>G | NP_001121695.1:p.Leu410Val | |
| NM_001290208.2:c.1228C>G | NP_001277137.1:p.Leu410Val | |
| NM_001290209.2:c.1078C>G | NP_001277138.1:p.Leu360Val | |
| NM_001324026.1:c.277+2881C>G | NP_001310955.1:n.277+2881C>G | |
| NM_001324027.1:c.1228C>G | NP_001310956.1:p.Leu410Val | |
| NM_001324028.1:c.256+2881C>G | NP_001310957.1:n.256+2881C>G | |
| XM_005264711.4:c.1228C>G | XP_005264768.1:p.Leu410Val | |
| XM_006712912.4:c.1207C>G | XP_006712975.1:p.Leu403Val | |
| XM_011533244.3:c.1330C>G | XP_011531546.1:p.Leu444Val | |
| XM_011533245.3:c.1264C>G | XP_011531547.1:p.Leu422Val | |
| XM_011533246.3:c.1330C>G | XP_011531548.1:p.Leu444Val | |
| XM_011533248.2:c.1330C>G | XP_011531550.1:p.Leu444Val | |
| XM_011533249.3:c.1330C>G | XP_011531551.1:p.Leu444Val | |
| XM_011533250.3:c.379+2881C>G | XP_011531552.1:n.379+2881C>G | |
| XM_011533251.2:c.379+2881C>G | XP_011531553.1:n.379+2881C>G | |
| XM_024453284.1:c.1207C>G | XP_024309052.1:p.Leu403Val | |
| XM_024453285.1:c.256+2881C>G | XP_024309053.1:n.256+2881C>G | |
| NM_001290208.3:c.1228C>G MANE Select | NP_001277137.1:p.Leu410Val | |
| NM_001290209.3:c.1078C>G | NP_001277138.1:p.Leu360Val | |
| NM_001290210.2:c.277+2881C>G | NP_001277139.1:n.277+2881C>G | |
| NM_001324026.2:c.277+2881C>G | NP_001310955.1:n.277+2881C>G |