Linked Data
ClinVar Variation Id:
449808
ClinVar RCV Id:
RCV000523171
dbSNP Id:
rs1413052565
gnomAD v3:
6-33163737-G-T
gnomAD v4:
6-33163737-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33163737G>T , CM000668.2:g.33163737G>T | GRCh38 |
| NC_000006.11:g.33131514G>T , CM000668.1:g.33131514G>T | GRCh37 |
| NC_000006.10:g.33239492G>T | NCBI36 |
| NG_011589.1:g.33732C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.958C>A | ||
| ENST00000341947.7:c.5152C>A MANE Select | ENSP00000339915.2:p.Leu1718Met | |
| ENST00000341947.6:c.5152C>A | ENSP00000339915.2:p.Leu1718Met | |
| ENST00000361917.5:c.4831C>A | ENSP00000355123.1:p.Leu1611Met | |
| ENST00000374708.8:c.4894C>A | ENSP00000363840.4:p.Leu1632Met | |
| ENST00000477772.1:n.942C>A | ||
| NM_080679.2:c.4831C>A | NP_542410.2:p.Leu1611Met | |
| NM_080680.2:c.5152C>A | NP_542411.2:p.Leu1718Met | |
| NM_080681.2:c.4894C>A | NP_542412.2:p.Leu1632Met | |
| XM_011514298.1:c.4306C>A | XP_011512600.1:p.Leu1436Met | |
| XM_011514299.1:c.4438C>A | XP_011512601.1:p.Leu1480Met | |
| XM_011514300.1:c.4258C>A | XP_011512602.1:p.Leu1420Met | |
| XM_011514301.1:c.4195C>A | XP_011512603.1:p.Leu1399Met | |
| XM_011514302.1:c.4039C>A | XP_011512604.1:p.Leu1347Met | |
| XM_011514299.2:c.4438C>A | XP_011512601.1:p.Leu1480Met | |
| XM_011514300.2:c.4258C>A | XP_011512602.1:p.Leu1420Met | |
| XM_011514302.2:c.4039C>A | XP_011512604.1:p.Leu1347Met | |
| XM_017010250.1:c.5152C>A | XP_016865739.1:p.Leu1718Met | |
| XM_017010251.2:c.3970C>A | XP_016865740.1:p.Leu1324Met | |
| NM_080680.3:c.5152C>A MANE Select | NP_542411.2:p.Leu1718Met | |
| NM_080681.3:c.4894C>A | NP_542412.2:p.Leu1632Met | |
| NM_080679.3:c.4831C>A | NP_542410.2:p.Leu1611Met |