Linked Data
ClinVar Variation Id:
178325
ClinVar RCV Id:
RCV000155069
RCV000278452
RCV000338212
RCV000332238
RCV000372982
RCV000731331
RCV003945231
dbSNP Id:
rs147576338
ExAC:
6:33137844 G / A
gnomAD v2:
6-33137844-G-A
gnomAD v3:
6-33170067-G-A
gnomAD v4:
6-33170067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33170067G>A , CM000668.2:g.33170067G>A | GRCh38 |
| NC_000006.11:g.33137844G>A , CM000668.1:g.33137844G>A | GRCh37 |
| NC_000006.10:g.33245822G>A | NCBI36 |
| NG_011589.1:g.27402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3616C>T MANE Select | ENSP00000339915.2:p.Leu1206= | |
| ENST00000341947.6:c.3616C>T | ENSP00000339915.2:p.Leu1206= | |
| ENST00000361917.5:c.3295C>T | ENSP00000355123.1:p.Leu1099= | |
| ENST00000374708.8:c.3358C>T | ENSP00000363840.4:p.Leu1120= | |
| ENST00000477772.1:n.273-4251C>T | ||
| NM_080679.2:c.3295C>T | NP_542410.2:p.Leu1099= | |
| NM_080680.2:c.3616C>T | NP_542411.2:p.Leu1206= | |
| NM_080681.2:c.3358C>T | NP_542412.2:p.Leu1120= | |
| XM_011514298.1:c.2770C>T | XP_011512600.1:p.Leu924= | |
| XM_011514299.1:c.2902C>T | XP_011512601.1:p.Leu968= | |
| XM_011514300.1:c.2722C>T | XP_011512602.1:p.Leu908= | |
| XM_011514301.1:c.2659C>T | XP_011512603.1:p.Leu887= | |
| XM_011514302.1:c.2503C>T | XP_011512604.1:p.Leu835= | |
| XM_011514299.2:c.2902C>T | XP_011512601.1:p.Leu968= | |
| XM_011514300.2:c.2722C>T | XP_011512602.1:p.Leu908= | |
| XM_011514302.2:c.2503C>T | XP_011512604.1:p.Leu835= | |
| XM_017010250.1:c.3616C>T | XP_016865739.1:p.Leu1206= | |
| XM_017010251.2:c.2434C>T | XP_016865740.1:p.Leu812= | |
| NM_080680.3:c.3616C>T MANE Select | NP_542411.2:p.Leu1206= | |
| NM_080681.3:c.3358C>T | NP_542412.2:p.Leu1120= | |
| NM_080679.3:c.3295C>T | NP_542410.2:p.Leu1099= |