Linked Data
dbSNP Id:
rs759086485
ExAC:
6:33138922 G / A
gnomAD v2:
6-33138922-G-A
gnomAD v4:
6-33171145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171145G>A , CM000668.2:g.33171145G>A | GRCh38 |
| NC_000006.11:g.33138922G>A , CM000668.1:g.33138922G>A | GRCh37 |
| NC_000006.10:g.33246900G>A | NCBI36 |
| NG_011589.1:g.26324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3335C>T MANE Select | ENSP00000339915.2:p.Pro1112Leu | |
| ENST00000341947.6:c.3335C>T | ENSP00000339915.2:p.Pro1112Leu | |
| ENST00000361917.5:c.3014C>T | ENSP00000355123.1:p.Pro1005Leu | |
| ENST00000374708.8:c.3077C>T | ENSP00000363840.4:p.Pro1026Leu | |
| ENST00000477772.1:n.273-5329C>T | ||
| NM_080679.2:c.3014C>T | NP_542410.2:p.Pro1005Leu | |
| NM_080680.2:c.3335C>T | NP_542411.2:p.Pro1112Leu | |
| NM_080681.2:c.3077C>T | NP_542412.2:p.Pro1026Leu | |
| XM_011514298.1:c.2489C>T | XP_011512600.1:p.Pro830Leu | |
| XM_011514299.1:c.2621C>T | XP_011512601.1:p.Pro874Leu | |
| XM_011514300.1:c.2441C>T | XP_011512602.1:p.Pro814Leu | |
| XM_011514301.1:c.2378C>T | XP_011512603.1:p.Pro793Leu | |
| XM_011514302.1:c.2222C>T | XP_011512604.1:p.Pro741Leu | |
| XM_011514299.2:c.2621C>T | XP_011512601.1:p.Pro874Leu | |
| XM_011514300.2:c.2441C>T | XP_011512602.1:p.Pro814Leu | |
| XM_011514302.2:c.2222C>T | XP_011512604.1:p.Pro741Leu | |
| XM_017010250.1:c.3335C>T | XP_016865739.1:p.Pro1112Leu | |
| XM_017010251.2:c.2153C>T | XP_016865740.1:p.Pro718Leu | |
| NM_080680.3:c.3335C>T MANE Select | NP_542411.2:p.Pro1112Leu | |
| NM_080681.3:c.3077C>T | NP_542412.2:p.Pro1026Leu | |
| NM_080679.3:c.3014C>T | NP_542410.2:p.Pro1005Leu |