Linked Data
dbSNP Id:
rs1772481746
gnomAD v3:
6-51659580-G-A
gnomAD v4:
6-51659580-G-A
COSMIC:
COSM5893168
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659580G>A , CM000668.2:g.51659580G>A | GRCh38 |
| NC_000006.11:g.51524378G>A , CM000668.1:g.51524378G>A | GRCh37 |
| NC_000006.10:g.51632337G>A | NCBI36 |
| NG_008753.1:g.433046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10546C>T MANE Select | ENSP00000360158.3:p.Pro3516Ser | |
| ENST00000371117.7:c.10546C>T | ENSP00000360158.3:p.Pro3516Ser | |
| NM_138694.3:c.10546C>T | NP_619639.3:p.Pro3516Ser | |
| XM_011514679.1:c.10546C>T | XP_011512981.1:p.Pro3516Ser | |
| XM_011514680.1:c.10546C>T | XP_011512982.1:p.Pro3516Ser | |
| XM_011514681.1:c.10417C>T | XP_011512983.1:p.Pro3473Ser | |
| XM_011514682.1:c.10408C>T | XP_011512984.1:p.Pro3470Ser | |
| XM_011514683.1:c.9904C>T | XP_011512985.1:p.Pro3302Ser | |
| XM_011514684.1:c.9835C>T | XP_011512986.1:p.Pro3279Ser | |
| XM_011514687.1:c.10157-10360C>T | XP_011512989.1:n.10157-10360C>T | |
| XM_011514690.1:c.4621C>T | XP_011512992.1:p.Pro1541Ser | |
| XM_011514691.1:c.4621C>T | XP_011512993.1:p.Pro1541Ser | |
| XR_926870.1:n.535+7207G>A | ||
| XR_926871.1:n.403+7207G>A | ||
| XR_926872.1:n.535+7207G>A | ||
| XM_011514680.3:c.10546C>T | XP_011512982.1:p.Pro3516Ser | |
| XM_011514682.3:c.10408C>T | XP_011512984.1:p.Pro3470Ser | |
| XM_011514683.3:c.9904C>T | XP_011512985.1:p.Pro3302Ser | |
| XM_011514684.3:c.9835C>T | XP_011512986.1:p.Pro3279Ser | |
| XM_011514690.3:c.4621C>T | XP_011512992.1:p.Pro1541Ser | |
| XM_011514691.3:c.4621C>T | XP_011512993.1:p.Pro1541Ser | |
| XM_017010944.2:c.10546C>T | XP_016866433.1:p.Pro3516Ser | |
| XM_017010945.2:c.10471C>T | XP_016866434.1:p.Pro3491Ser | |
| XM_017010946.2:c.10351C>T | XP_016866435.1:p.Pro3451Ser | |
| XM_017010947.2:c.10282C>T | XP_016866436.1:p.Pro3428Ser | |
| XM_017010948.2:c.9835C>T | XP_016866437.1:p.Pro3279Ser | |
| XM_017010949.2:c.8686C>T | XP_016866438.1:p.Pro2896Ser | |
| XR_001743469.1:n.10822C>T | ||
| XR_001744157.1:n.3145+7207G>A | ||
| XR_926870.2:n.3145+7207G>A | ||
| XR_926871.2:n.3013+7207G>A | ||
| XR_926872.2:n.3145+7207G>A | ||
| NM_138694.4:c.10546C>T MANE Select | NP_619639.3:p.Pro3516Ser |