Linked Data
ClinVar Variation Id:
317189
ClinVar RCV Id:
RCV000390250
dbSNP Id:
rs556322755
ExAC:
15:77329514 T / C
gnomAD v2:
15-77329514-T-C
gnomAD v3:
15-77037173-T-C
gnomAD v4:
15-77037173-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77037173T>C , CM000677.2:g.77037173T>C | GRCh38 |
| NC_000015.9:g.77329514T>C , CM000677.1:g.77329514T>C | GRCh37 |
| NC_000015.8:g.75116569T>C | NCBI36 |
| NG_007526.1:g.47050T>C , LRG_172:g.47050T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.2414T>C | ||
| ENST00000697623.1:n.2667T>C | ||
| ENST00000558012.6:c.1248T>C MANE Select | ENSP00000452746.1:p.Leu416= | |
| ENST00000379595.7:c.1239T>C | ENSP00000368914.3:p.Leu413= | |
| ENST00000557995.1:n.912T>C | ||
| ENST00000558012.5:c.1248T>C | ENSP00000452746.1:p.Leu416= | |
| ENST00000558870.1:c.397T>C | ||
| ENST00000559295.5:c.1191T>C | ENSP00000452743.1:p.Leu397= | |
| ENST00000559785.5:c.*223T>C | ENSP00000452986.1:n.*223T>C | |
| ENST00000560064.1:n.371T>C | ||
| ENST00000560223.5:c.*1350T>C | ENSP00000454118.1:n.*1350T>C | |
| NM_003978.3:c.1248T>C , LRG_172t1:c.1248T>C | NP_003969.2:p.Leu416= | |
| XM_006720737.2:c.882T>C | XP_006720800.1:p.Leu294= | |
| XM_011522163.1:c.1296T>C | XP_011520465.1:p.Leu432= | |
| XM_011522164.1:c.1203T>C | XP_011520466.1:p.Leu401= | |
| XM_011522165.1:c.1101T>C | XP_011520467.1:p.Leu367= | |
| XM_011522168.1:c.1305T>C | XP_011520470.1:p.Leu435= | |
| XM_011522170.1:c.690T>C | XP_011520472.1:p.Leu230= | |
| XM_011522171.1:c.630T>C | XP_011520473.1:p.Leu210= | |
| XM_011522172.1:c.630T>C | XP_011520474.1:p.Leu210= | |
| XM_011522173.1:c.630T>C | XP_011520475.1:p.Leu210= | |
| XR_931936.1:n.1789T>C | ||
| XR_931937.1:n.1732T>C | ||
| XR_931938.1:n.1664T>C | ||
| XR_931939.1:n.1567T>C | ||
| XR_931940.1:n.1388T>C | ||
| NM_001321135.1:c.1191T>C | NP_001308064.1:p.Leu397= | |
| NM_001321136.1:c.1221T>C | NP_001308065.1:p.Leu407= | |
| NM_001321137.1:c.1443T>C | NP_001308066.1:p.Leu481= | |
| NM_003978.4:c.1248T>C | NP_003969.2:p.Leu416= | |
| NR_135552.1:n.1469T>C | ||
| XM_006720737.3:c.882T>C | XP_006720800.1:p.Leu294= | |
| XM_011522163.2:c.1296T>C | XP_011520465.1:p.Leu432= | |
| XM_011522165.2:c.1101T>C | XP_011520467.1:p.Leu367= | |
| XM_011522168.3:c.1305T>C | XP_011520470.1:p.Leu435= | |
| XR_931936.2:n.1787T>C | ||
| XR_931937.2:n.1730T>C | ||
| XR_931938.2:n.1662T>C | ||
| XR_931939.2:n.1565T>C | ||
| NM_001321135.2:c.1191T>C | NP_001308064.1:p.Leu397= | |
| NM_001321136.2:c.1221T>C | NP_001308065.1:p.Leu407= | |
| NM_003978.5:c.1248T>C MANE Select | NP_003969.2:p.Leu416= | |
| NR_135552.2:n.1428T>C |